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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</title><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B" last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L" last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Department of Population Sciences, Beckman Research Institute of City of Hope,</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2157 2938</institution-id><institution-id institution-id-type="GRID">grid.17063.33</institution-id><institution>Department of Laboratory Medicine and Pathobiology,</institution><institution>University of Toronto,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0474 0428</institution-id><institution-id institution-id-type="GRID">grid.231844.8</institution-id><institution>Laboratory Medicine Program,</institution><institution>University Health Network,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L" last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0473 9881</institution-id><institution-id institution-id-type="GRID">grid.416166.2</institution-id><institution></institution><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2157 2938</institution-id><institution-id institution-id-type="GRID">grid.17063.33</institution-id><institution>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology,</institution><institution>University of Toronto,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute,</institution></institution-wrap>Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K" last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>Division of Psychosocial Research and Epidemiology, Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K" last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne, on behalf of the German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC),</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2230 9752</institution-id><institution-id institution-id-type="GRID">grid.9647.c</institution-id><institution>Institute for Medical Informatics,</institution><institution>Statistics and Epidemiology University of Leipzig,</institution></institution-wrap>Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0410 2071</institution-id><institution-id institution-id-type="GRID">grid.7737.4</institution-id><institution>Department of Obstetrics and Gynecology,</institution><institution>University of Helsinki and Helsinki University Central Hospital,</institution></institution-wrap>Helsinki, HUS Finland</nlm:aff></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:aff id="Aff16"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 5013</institution-id><institution-id institution-id-type="GRID">grid.7143.1</institution-id><institution>Department of Clinical Genetics,</institution><institution>Odense University Hospital,</institution></institution-wrap>Odense C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Pathology, Genetic Epidemiology Laboratory,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, Australia</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="Aff18"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Department of Preventive and Predictive Medicine, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J" last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2156 6853</institution-id><institution-id institution-id-type="GRID">grid.42505.36</institution-id><institution>Department of Preventive Medicine, Keck School of Medicine,</institution><institution>University of Southern California,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M" last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L" last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Lee, Andrew" sort="Lee, Andrew" uniqKey="Lee A" first="Andrew" last="Lee">Andrew Lee</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="Aff21"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics & Computational Biology, Queensland Institute of Medical Research, Herston,</institution></institution-wrap>Australia</nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L" last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="Aff22"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2297 6811</institution-id><institution-id institution-id-type="GRID">grid.266102.1</institution-id><institution>Department of Medicine and Institute for Human Genetics,</institution><institution>University of California,</institution></institution-wrap>San Francisco, CA USA</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R" last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="Aff23"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K" last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="Aff24"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2291 4776</institution-id><institution-id institution-id-type="GRID">grid.240145.6</institution-id><institution></institution><institution>University of Texas MD Anderson Cancer Center,</institution></institution-wrap>Houston, TX USA</nlm:aff></affiliation></author><author><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name><affiliation><nlm:aff id="Aff25"><institution-wrap><institution-id institution-id-type="ISNI">0000000403978434</institution-id><institution-id institution-id-type="GRID">grid.1055.1</institution-id><institution></institution><institution>Familial Cancer Centre, Peter MacCallum Cancer Centre,</institution></institution-wrap>Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff26"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Sir Peter MacCallum Department of Oncology,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, Australia</nlm:aff></affiliation></author><author><name sortKey="Karlan, Beth Y" sort="Karlan, Beth Y" uniqKey="Karlan B" first="Beth Y" last="Karlan">Beth Y. Karlan</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Lester, Jenny" sort="Lester, Jenny" uniqKey="Lester J" first="Jenny" last="Lester">Jenny Lester</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Cass, Ilana" sort="Cass, Ilana" uniqKey="Cass I" first="Ilana" last="Cass">Ilana Cass</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Registry, Breast Cancer Family" sort="Registry, Breast Cancer Family" uniqKey="Registry B" first="Breast Cancer Family" last="Registry">Breast Cancer Family Registry</name><affiliation><nlm:aff id="Aff28"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0498 8300</institution-id><institution-id institution-id-type="GRID">grid.280669.3</institution-id><institution></institution><institution>Department of Epidemiology, Cancer Prevention Institute of California,</institution></institution-wrap>Fremont, CA USA</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="Aff29"><institution-wrap><institution-id institution-id-type="ISNI">0000000419368729</institution-id><institution-id institution-id-type="GRID">grid.21729.3f</institution-id><institution>Department of Epidemiology,</institution><institution>Columbia University,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Daly, Mary B" sort="Daly, Mary B" uniqKey="Daly M" first="Mary B" last="Daly">Mary B. Daly</name><affiliation><nlm:aff id="Aff30"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0456 6466</institution-id><institution-id institution-id-type="GRID">grid.412530.1</institution-id><institution></institution><institution>Fox Chase Cancer Center,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="Aff31"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of Dermatology,</institution><institution>University of Utah School of Medicine,</institution></institution-wrap>Salt Lake City, UT USA</nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S" last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="Aff32"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of Oncological Sciences, Huntsman Cancer Institute,</institution><institution>University of Utah School of Medicine,</institution></institution-wrap>Salt Lake City, UT USA</nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="Aff33"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0567 3159</institution-id><institution-id institution-id-type="GRID">grid.426597.b</institution-id><institution>Department of Molecular and Regenerative Medicine,</institution><institution>Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center,</institution></institution-wrap>Vilnius, Lithuania</nlm:aff></affiliation><affiliation><nlm:aff id="Aff34">State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania</nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="Aff35"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 4648 9892</institution-id><institution-id institution-id-type="GRID">grid.419210.f</institution-id><institution></institution><institution>Latvian Biomedical Research and Study Centre,</institution></institution-wrap>Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Tung, Nadine" sort="Tung, Nadine" uniqKey="Tung N" first="Nadine" last="Tung">Nadine Tung</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9011 8547</institution-id><institution-id institution-id-type="GRID">grid.239395.7</institution-id><institution></institution><institution>Department of Medical Oncology, Beth Israel Deaconess Medical Center,</institution></institution-wrap>Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M" last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2298</institution-id><institution-id institution-id-type="GRID">grid.49697.35</institution-id><institution>Department of Genetics,</institution><institution>University of Pretoria,</institution></institution-wrap>Pretoria, South Africa</nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elizabeth J" sort="Van Rensburg, Elizabeth J" uniqKey="Van Rensburg E" first="Elizabeth J" last="Van Rensburg">Elizabeth J. Van Rensburg</name><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2298</institution-id><institution-id institution-id-type="GRID">grid.49697.35</institution-id><institution>Department of Genetics,</institution><institution>University of Pretoria,</institution></institution-wrap>Pretoria, South Africa</nlm:aff></affiliation></author><author><name sortKey="Steele, Linda" sort="Steele, Linda" uniqKey="Steele L" first="Linda" last="Steele">Linda Steele</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Department of Population Sciences, Beckman Research Institute of City of Hope,</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="V O Hansen, Thomas" sort="V O Hansen, Thomas" uniqKey="V O Hansen T" first="Thomas" last="V O Hansen">Thomas V O Hansen</name><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Center for Genomic Medicine, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Department of Oncology, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation><nlm:aff id="Aff40"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Department of Clinical Genetics, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C" last="Nielsen">Finn C. Nielsen</name><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Center for Genomic Medicine, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie" sort="Cunningham, Julie" uniqKey="Cunningham J" first="Julie" last="Cunningham">Julie Cunningham</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Hart, Steven" sort="Hart, Steven" uniqKey="Hart S" first="Steven" last="Hart">Steven Hart</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="Aff43"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8700 1153</institution-id><institution-id institution-id-type="GRID">grid.7719.8</institution-id><institution></institution><institution>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases (CIBERER),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="Aff44"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8700 1153</institution-id><institution-id institution-id-type="GRID">grid.7719.8</institution-id><institution></institution><institution>Human Genetics Group and Genotyping Unit, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases (CIBERER),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Duran, Mercedes" sort="Duran, Mercedes" uniqKey="Duran M" first="Mercedes" last="Duran">Mercedes Duran</name><affiliation><nlm:aff id="Aff45"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2286 5329</institution-id><institution-id institution-id-type="GRID">grid.5239.d</institution-id><institution>Institute of Biology and Molecular Genetics,</institution><institution>Universidad de Valladolid (IBGM-UVA),</institution></institution-wrap>Valladolid, Spain</nlm:aff></affiliation></author><author><name sortKey="Weitzel, Jeffrey N" sort="Weitzel, Jeffrey N" uniqKey="Weitzel J" first="Jeffrey N" last="Weitzel">Jeffrey N. Weitzel</name><affiliation><nlm:aff id="Aff46"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Clinical Cancer Genetics, City of Hope (for the City of Hope Clinical Cancer Genetics Community Research Network),</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Tafur, Isaac" sort="Tafur, Isaac" uniqKey="Tafur I" first="Isaac" last="Tafur">Isaac Tafur</name><affiliation><nlm:aff id="Aff47">Covenant Health Joe Arrington Cancer Research Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Hander, Mary" sort="Hander, Mary" uniqKey="Hander M" first="Mary" last="Hander">Mary Hander</name><affiliation><nlm:aff id="Aff48">Kootenai Cancer Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="Aff49"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Roversi, Gaia" sort="Roversi, Gaia" uniqKey="Roversi G" first="Gaia" last="Roversi">Gaia Roversi</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Scuvera, Giulietta" sort="Scuvera, Giulietta" uniqKey="Scuvera G" first="Giulietta" last="Scuvera">Giulietta Scuvera</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="Aff51"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 0843</institution-id><institution-id institution-id-type="GRID">grid.15667.33</institution-id><institution></institution><institution>Division of Cancer Prevention and Genetics, European Institute of Oncology,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Mariani, Paolo" sort="Mariani, Paolo" uniqKey="Mariani P" first="Paolo" last="Mariani">Paolo Mariani</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 9741</institution-id><institution-id institution-id-type="GRID">grid.418321.d</institution-id><institution></institution><institution>Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS,</institution></institution-wrap>Aviano, PN Italy</nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 7871</institution-id><institution-id institution-id-type="GRID">grid.410345.7</institution-id><institution></institution><institution>Unit of Hereditary Cancer, IRCCS AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro,</institution></institution-wrap>Genoa, Italy</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="Aff55"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 2304</institution-id><institution-id institution-id-type="GRID">grid.8404.8</institution-id><institution>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences,</institution><institution>University of Florence,</institution></institution-wrap>Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="Aff56"><institution-wrap><institution-id institution-id-type="GRID">grid.412972.b</institution-id><institution></institution><institution>Ospedale di Circolo e Fondazione Macchi Polo Universitario,</institution></institution-wrap>Varese, Italy</nlm:aff></affiliation></author><author><name sortKey="Giannini, Giuseppe" sort="Giannini, Giuseppe" uniqKey="Giannini G" first="Giuseppe" last="Giannini">Giuseppe Giannini</name><affiliation><nlm:aff id="Aff57"><institution-wrap><institution-id institution-id-type="GRID">grid.7841.a</institution-id><institution>Department of Molecular Medicine,</institution><institution>University La Sapienza,</institution></institution-wrap>Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="Aff58"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0635 6999</institution-id><institution-id institution-id-type="GRID">grid.6083.d</institution-id><institution></institution><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Aghia Paraskevi Attikis,</institution></institution-wrap>Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="Aff58"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0635 6999</institution-id><institution-id institution-id-type="GRID">grid.6083.d</institution-id><institution></institution><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Aghia Paraskevi Attikis,</institution></institution-wrap>Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Garber, Judy" sort="Garber, Judy" uniqKey="Garber J" first="Judy" last="Garber">Judy Garber</name><affiliation><nlm:aff id="Aff59"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 9910</institution-id><institution-id institution-id-type="GRID">grid.65499.37</institution-id><institution></institution><institution>Dana-Farber Cancer Institute,</institution></institution-wrap>Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="Aff60"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0492 0584</institution-id><institution-id institution-id-type="GRID">grid.7497.d</institution-id><institution></institution><institution>Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ),</institution></institution-wrap>Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Donaldson, Alan" sort="Donaldson, Alan" uniqKey="Donaldson A" first="Alan" last="Donaldson">Alan Donaldson</name><affiliation><nlm:aff id="Aff61"><institution-wrap><institution-id institution-id-type="GRID">grid.416544.6</institution-id><institution>Clinical Genetics Department,</institution><institution>St Michael’s Hospital,</institution></institution-wrap>Bristol, UK</nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="Aff62"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8527 9995</institution-id><institution-id institution-id-type="GRID">grid.416118.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Royal Devon and Exeter Hospital,</institution></institution-wrap>Exeter, UK</nlm:aff></affiliation></author><author><name sortKey="Foo, Claire" sort="Foo, Claire" uniqKey="Foo C" first="Claire" last="Foo">Claire Foo</name><affiliation><nlm:aff id="Aff63"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 1251</institution-id><institution-id institution-id-type="GRID">grid.419317.9</institution-id><institution></institution><institution>Cheshire and Merseyside Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust,</institution></institution-wrap>Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D Gareth" last="Evans">D Gareth Evans</name><affiliation><nlm:aff id="Aff64"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0430 9101</institution-id><institution-id institution-id-type="GRID">grid.411037.0</institution-id><institution></institution><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust,</institution></institution-wrap>Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="Aff65"><institution-wrap><institution-id institution-id-type="GRID">grid.430506.4</institution-id><institution></institution><institution>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust,</institution></institution-wrap>Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Douglas, Fiona" sort="Douglas, Fiona" uniqKey="Douglas F" first="Fiona" last="Douglas">Fiona Douglas</name><affiliation><nlm:aff id="Aff66">Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK</nlm:aff></affiliation></author><author><name sortKey="Brady, Angela" sort="Brady, Angela" uniqKey="Brady A" first="Angela" last="Brady">Angela Brady</name><affiliation><nlm:aff id="Aff67">North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="Aff68"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 6082</institution-id><institution-id institution-id-type="GRID">grid.413991.7</institution-id><institution>Sheffield Clinical Genetics Service,</institution><institution>Sheffield Children’s Hospital,</institution></institution-wrap>Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="Aff69"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0622 5016</institution-id><institution-id institution-id-type="GRID">grid.120073.7</institution-id><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service,</institution><institution>Addenbrookes Hospital,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="Aff70">Yorkshire Regional Genetics Service, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Barwell, Julian" sort="Barwell, Julian" uniqKey="Barwell J" first="Julian" last="Barwell">Julian Barwell</name><affiliation><nlm:aff id="Aff71"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0435 9078</institution-id><institution-id institution-id-type="GRID">grid.269014.8</institution-id><institution>Leicestershire Clinical Genetics Service,</institution><institution>University Hospitals of Leicester NHS Trust,</institution></institution-wrap>Leicester, UK</nlm:aff></affiliation></author><author><name sortKey="Ong, Kai Ren" sort="Ong, Kai Ren" uniqKey="Ong K" first="Kai-Ren" last="Ong">Kai-Ren Ong</name><affiliation><nlm:aff id="Aff72">West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham UK</nlm:aff></affiliation></author><author><name sortKey="Walker, Lisa" sort="Walker, Lisa" uniqKey="Walker L" first="Lisa" last="Walker">Lisa Walker</name><affiliation><nlm:aff id="Aff73"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0488 9484</institution-id><institution-id institution-id-type="GRID">grid.415719.f</institution-id><institution>Oxford Regional Genetics Service,</institution><institution>Churchill Hospital,</institution></institution-wrap>Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="Aff74"><institution-wrap><institution-id institution-id-type="GRID">grid.420545.2</institution-id><institution></institution><institution>Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Side, Lucy E" sort="Side, Lucy E" uniqKey="Side L" first="Lucy E" last="Side">Lucy E. Side</name><affiliation><nlm:aff id="Aff75"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0426 7394</institution-id><institution-id institution-id-type="GRID">grid.424537.3</institution-id><institution></institution><institution>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Kennedy, M John" sort="Kennedy, M John" uniqKey="Kennedy M" first="M John" last="Kennedy">M John Kennedy</name><affiliation><nlm:aff id="Aff76"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9705</institution-id><institution-id institution-id-type="GRID">grid.8217.c</institution-id><institution>Academic Unit of Clinical and Molecular Oncology,</institution><institution>Trinity College Dublin and St James’s Hospital,</institution></institution-wrap>Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Rogers, Mark T" sort="Rogers, Mark T" uniqKey="Rogers M" first="Mark T" last="Rogers">Mark T. Rogers</name><affiliation><nlm:aff id="Aff77"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0169 7725</institution-id><institution-id institution-id-type="GRID">grid.241103.5</institution-id><institution>All Wales Medical Genetics Services,</institution><institution>University Hospital of Wales,</institution></institution-wrap>Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Porteous, Mary E" sort="Porteous, Mary E" uniqKey="Porteous M" first="Mary E" last="Porteous">Mary E. Porteous</name><affiliation><nlm:aff id="Aff78"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0624 9907</institution-id><institution-id institution-id-type="GRID">grid.417068.c</institution-id><institution>South East of Scotland Regional Genetics Service,</institution><institution>Western General Hospital,</institution></institution-wrap>Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Morrison, Patrick J" sort="Morrison, Patrick J" uniqKey="Morrison P" first="Patrick J" last="Morrison">Patrick J. Morrison</name><affiliation><nlm:aff id="Aff79"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0374 7521</institution-id><institution-id institution-id-type="GRID">grid.4777.3</institution-id><institution>Department of Medical Genetics, Belfast Health and Social Care Trust, Centre for Cancer Research & Cell Biology,</institution><institution>Queen’s University Belfast,</institution></institution-wrap>Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Platte, Radka" sort="Platte, Radka" uniqKey="Platte R" first="Radka" last="Platte">Radka Platte</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="Aff80"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0304 893X</institution-id><institution-id institution-id-type="GRID">grid.5072.0</institution-id><institution></institution><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="Aff81"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 4685 794X</institution-id><institution-id institution-id-type="GRID">grid.415571.3</institution-id><institution>Ferguson-Smith Centre for Clinical Genetics,</institution><institution>Yorkhill Hospitals,</institution></institution-wrap>Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="Aff82"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2161 2573</institution-id><institution-id institution-id-type="GRID">grid.4464.2</institution-id><institution>Medical Genetics Unit, St George’s,</institution><institution>University of London,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K" last="Godwin">Andrew K. Godwin</name><affiliation><nlm:aff id="Aff83"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 6375</institution-id><institution-id institution-id-type="GRID">grid.412016.0</institution-id><institution>Department of Pathology and Laboratory Medicine,</institution><institution>University of Kansas Medical Center,</institution></institution-wrap>Kansas City, KS USA</nlm:aff></affiliation></author><author><name sortKey="Rhiem, Kerstin" sort="Rhiem, Kerstin" uniqKey="Rhiem K" first="Kerstin" last="Rhiem">Kerstin Rhiem</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="Aff84"><institution-wrap><institution-id institution-id-type="ISNI">0000000123222966</institution-id><institution-id institution-id-type="GRID">grid.6936.a</institution-id><institution>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar,</institution><institution>Technical University of Munich,</institution></institution-wrap>Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="Aff85"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id><institution-id institution-id-type="GRID">grid.5252.0</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Munich,</institution></institution-wrap>Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="Aff86"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 2097</institution-id><institution-id institution-id-type="GRID">grid.412468.d</institution-id><institution></institution><institution>University Hospital of Schleswig-Holstein/University Kiel,</institution></institution-wrap>Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Plendl, Hansjoerg" sort="Plendl, Hansjoerg" uniqKey="Plendl H" first="Hansjoerg" last="Plendl">Hansjoerg Plendl</name><affiliation><nlm:aff id="Aff87">Institute of Human Genetics, University Hospital of Schleswig-Holstein, University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Niederacher, Dieter" sort="Niederacher, Dieter" uniqKey="Niederacher D" first="Dieter" last="Niederacher">Dieter Niederacher</name><affiliation><nlm:aff id="Aff88"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2176 9917</institution-id><institution-id institution-id-type="GRID">grid.411327.2</institution-id><institution></institution><institution>University Düsseldorf,</institution></institution-wrap>Dusseldorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="Aff89"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2190 4373</institution-id><institution-id institution-id-type="GRID">grid.7700.0</institution-id><institution></institution><institution>University Heidelberg,</institution></institution-wrap>Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="Aff90"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9529 9877</institution-id><institution-id institution-id-type="GRID">grid.10423.34</institution-id><institution></institution><institution>Hannover Medical School,</institution></institution-wrap>Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Bogdanova Markov, Nadja" sort="Bogdanova Markov, Nadja" uniqKey="Bogdanova Markov N" first="Nadja" last="Bogdanova-Markov">Nadja Bogdanova-Markov</name><affiliation><nlm:aff id="Aff91"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2240 3300</institution-id><institution-id institution-id-type="GRID">grid.10388.32</institution-id><institution></institution><institution>Institute of Human Genetics,</institution></institution-wrap>Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Kast, Karin" sort="Kast, Karin" uniqKey="Kast K" first="Karin" last="Kast">Karin Kast</name><affiliation><nlm:aff id="Aff92"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2111 7257</institution-id><institution-id institution-id-type="GRID">grid.4488.0</institution-id><institution></institution><institution>University Dresden,</institution></institution-wrap>Dresden, Germany</nlm:aff></affiliation></author><author><name sortKey="Varon Mateeva, Raymonda" sort="Varon Mateeva, Raymonda" uniqKey="Varon Mateeva R" first="Raymonda" last="Varon-Mateeva">Raymonda Varon-Mateeva</name><affiliation><nlm:aff id="Aff93">Institute of Medical Genetics and Human Genetics, Charité, Berlin Germany</nlm:aff></affiliation></author><author><name sortKey="Wang Gohrke, Shan" sort="Wang Gohrke, Shan" uniqKey="Wang Gohrke S" first="Shan" last="Wang-Gohrke">Shan Wang-Gohrke</name><affiliation><nlm:aff id="Aff94"><institution-wrap><institution-id institution-id-type="GRID">grid.410712.1</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Hospital Ulm,</institution></institution-wrap>Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation><nlm:aff id="Aff95"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1958 8658</institution-id><institution-id institution-id-type="GRID">grid.8379.5</institution-id><institution>Institute of Human Genetics,</institution><institution>University Wurzburg,</institution></institution-wrap>Wurzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Markiefka, Birgid" sort="Markiefka, Birgid" uniqKey="Markiefka B" first="Birgid" last="Markiefka">Birgid Markiefka</name><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lefol, Cedrick" sort="Lefol, Cedrick" uniqKey="Lefol C" first="Cédrick" last="Lefol">Cédrick Lefol</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff97"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Institut Curie, INSERM U830,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff98"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution></institution><institution>Université Paris Descartes,</institution></institution-wrap>Sorbonne Paris Cité, Paris France</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Etienne" sort="Rouleau, Etienne" uniqKey="Rouleau E" first="Etienne" last="Rouleau">Etienne Rouleau</name><affiliation><nlm:aff id="Aff99"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0099 404X</institution-id><institution-id institution-id-type="GRID">grid.418205.a</institution-id><institution>Laboratoire d’Oncogénétique,</institution><institution>Hôpital René Huguenin, Institut Curie,</institution></institution-wrap>Saint-Cloud, France</nlm:aff></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:aff id="Aff100">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de St Etienne, St Etienne, France</nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="Aff103"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Centre de Génétique, CHU Dijon,</institution><institution>Université de Bourgogne,</institution></institution-wrap>Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff104"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 1257</institution-id><institution-id institution-id-type="GRID">grid.418037.9</institution-id><institution></institution><institution>Centre Georges François Leclerc,</institution></institution-wrap>Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name><affiliation><nlm:aff id="Aff105"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 639X</institution-id><institution-id institution-id-type="GRID">grid.412041.2</institution-id><institution>Cancer Genetics Unit, INSERM U916, Institut Bergonié,</institution><institution>Université de Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Sevenet, Nicolas" sort="Sevenet, Nicolas" uniqKey="Sevenet N" first="Nicolas" last="Sevenet">Nicolas Sevenet</name><affiliation><nlm:aff id="Aff105"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 639X</institution-id><institution-id institution-id-type="GRID">grid.412041.2</institution-id><institution>Cancer Genetics Unit, INSERM U916, Institut Bergonié,</institution><institution>Université de Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M" last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff106">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Bonadona, Valerie" sort="Bonadona, Valerie" uniqKey="Bonadona V" first="Valérie" last="Bonadona">Valérie Bonadona</name><affiliation><nlm:aff id="Aff107"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 7757</institution-id><institution-id institution-id-type="GRID">grid.7849.2</institution-id><institution></institution><institution>Université Lyon 1, CNRS UMR5558,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff108"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0200 3174</institution-id><institution-id institution-id-type="GRID">grid.418116.b</institution-id><institution></institution><institution>Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Caux Moncoutier, Virginie" sort="Caux Moncoutier, Virginie" uniqKey="Caux Moncoutier V" first="Virginie" last="Caux-Moncoutier">Virginie Caux-Moncoutier</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Isaacs, Claudine" sort="Isaacs, Claudine" uniqKey="Isaacs C" first="Claudine" last="Isaacs">Claudine Isaacs</name><affiliation><nlm:aff id="Aff109"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1955 1644</institution-id><institution-id institution-id-type="GRID">grid.213910.8</institution-id><institution>Lombardi Comprehensive Cancer Center,</institution><institution>Georgetown University,</institution></institution-wrap>Washington, DC USA</nlm:aff></affiliation></author><author><name sortKey="Van Maerken, Tom" sort="Van Maerken, Tom" uniqKey="Van Maerken T" first="Tom" last="Van Maerken">Tom Van Maerken</name><affiliation><nlm:aff id="Aff110"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2069 7798</institution-id><institution-id institution-id-type="GRID">grid.5342.0</institution-id><institution>Center for Medical Genetics,</institution><institution>Ghent University,</institution></institution-wrap>Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><nlm:aff id="Aff110"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2069 7798</institution-id><institution-id institution-id-type="GRID">grid.5342.0</institution-id><institution>Center for Medical Genetics,</institution><institution>Ghent University,</institution></institution-wrap>Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name><affiliation><nlm:aff id="Aff111"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2181 8635</institution-id><institution-id institution-id-type="GRID">grid.240614.5</institution-id><institution></institution><institution>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute,</institution></institution-wrap>Buffalo, NY USA</nlm:aff></affiliation></author><author><name sortKey="Andrews, Lesley" sort="Andrews, Lesley" uniqKey="Andrews L" first="Lesley" last="Andrews">Lesley Andrews</name><affiliation><nlm:aff id="Aff112"><institution-wrap><institution-id institution-id-type="GRID">grid.415193.b</institution-id><institution>ANZGOG Australia, New Zealand Gynaecological Oncology Group,</institution><institution>Prince of Wales Hospital,</institution></institution-wrap>Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Hays, John" sort="Hays, John" uniqKey="Hays J" first="John" last="Hays">John Hays</name><affiliation><nlm:aff id="Aff113"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution></institution><institution>The Ohio State University, Columbus Cancer Council,</institution></institution-wrap>Columbus, OH USA</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo C" sort="Rodriguez, Gustavo C" uniqKey="Rodriguez G" first="Gustavo C" last="Rodriguez">Gustavo C. Rodriguez</name><affiliation><nlm:aff id="Aff114"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0400 4439</institution-id><institution-id institution-id-type="GRID">grid.240372.0</institution-id><institution>Division of Gynecologic Oncology,</institution><institution>NorthShore University HealthSystem,</institution></institution-wrap>Evanston, IL USA</nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="Aff115"><institution-wrap><institution-id institution-id-type="GRID">grid.414780.e</institution-id><institution></institution><institution>Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos (IdISSC),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="Aff115"><institution-wrap><institution-id institution-id-type="GRID">grid.414780.e</institution-id><institution></institution><institution>Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos (IdISSC),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0410 2071</institution-id><institution-id institution-id-type="GRID">grid.7737.4</institution-id><institution>Department of Obstetrics and Gynecology,</institution><institution>University of Helsinki and Helsinki University Central Hospital,</institution></institution-wrap>Helsinki, HUS Finland</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans Bl" sort="Hogervorst, Frans Bl" uniqKey="Hogervorst F" first="Frans Bl" last="Hogervorst">Frans Bl Hogervorst</name><affiliation><nlm:aff id="Aff116"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>Family Cancer Clinic, Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Aalfs, Cora M" sort="Aalfs, Cora M" uniqKey="Aalfs C" first="Cora M" last="Aalfs">Cora M. Aalfs</name><affiliation><nlm:aff id="Aff117"><institution-wrap><institution-id institution-id-type="ISNI">0000000404654431</institution-id><institution-id institution-id-type="GRID">grid.5650.6</institution-id><institution></institution><institution>Department of Clinical Genetics, Academic Medical Center,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Lange, Jl" sort="De Lange, Jl" uniqKey="De Lange J" first="Jl" last="De Lange">Jl De Lange</name><affiliation><nlm:aff id="Aff118"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution>Department of Epidemiology,</institution><institution>Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne Ej" sort="Meijers Heijboer, Hanne Ej" uniqKey="Meijers Heijboer H" first="Hanne Ej" last="Meijers-Heijboer">Hanne Ej Meijers-Heijboer</name><affiliation><nlm:aff id="Aff119"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0435 165X</institution-id><institution-id institution-id-type="GRID">grid.16872.3a</institution-id><institution></institution><institution>Department of Clinical Genetics, VU University Medical Centre,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><nlm:aff id="Aff120"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0407 1981</institution-id><institution-id institution-id-type="GRID">grid.4830.f</institution-id><institution>Department of Genetics, University Medical Center,</institution><institution>Groningen University,</institution></institution-wrap>Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T" last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="Aff121"><institution-wrap><institution-id institution-id-type="ISNI">0000000089452978</institution-id><institution-id institution-id-type="GRID">grid.10419.3d</institution-id><institution>Department of Human Genetics and Department of Clinical Genetics,</institution><institution>Leiden University Medical Center,</institution></institution-wrap>Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Roozendaal, Kep" sort="Van Roozendaal, Kep" uniqKey="Van Roozendaal K" first="Kep" last="Van Roozendaal">Kep Van Roozendaal</name><affiliation><nlm:aff id="Aff122"><institution-wrap><institution-id institution-id-type="GRID">grid.412966.e</institution-id><institution>Department of Clinical Genetics,</institution><institution>Maastricht University Medical Center,</institution></institution-wrap>Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R" last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation><nlm:aff id="Aff123"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0444 9382</institution-id><institution-id institution-id-type="GRID">grid.10417.33</institution-id><institution>Department of Human Genetics,</institution><institution>Radboud University Nijmegen Medical Centre,</institution></institution-wrap>Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans Mw" sort="Van Den Ouweland, Ans Mw" uniqKey="Van Den Ouweland A" first="Ans Mw" last="Van Den Ouweland">Ans Mw Van Den Ouweland</name><affiliation><nlm:aff id="Aff124"><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Clinical Genetics,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Deurzen, Carolien Hm" sort="Van Deurzen, Carolien Hm" uniqKey="Van Deurzen C" first="Carolien Hm" last="Van Deurzen">Carolien Hm Van Deurzen</name><affiliation><nlm:aff id="Aff125"><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Pathology, Family Cancer Clinic,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="Aff126"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Medical Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Olah, Edith" sort="Olah, Edith" uniqKey="Olah E" first="Edith" last="Olah">Edith Olah</name><affiliation><nlm:aff id="Aff128"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0667 8064</institution-id><institution-id institution-id-type="GRID">grid.419617.c</institution-id><institution></institution><institution>Department of Molecular Genetics, National Institute of Oncology,</institution></institution-wrap>Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="Aff129"><institution-wrap><institution-id institution-id-type="GRID">grid.7080.f</institution-id><institution>Oncogenetics Group, University Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR),</institution><institution>Universitat Autònoma de Barcelona,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:aff id="Aff130"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="Aff131"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="Aff131"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menendez">Mireia Menendez</name><affiliation><nlm:aff id="Aff130"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Cybulski, Cezary" sort="Cybulski, Cezary" uniqKey="Cybulski C" first="Cezary" last="Cybulski">Cezary Cybulski</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Durda, Katarzyna" sort="Durda, Katarzyna" uniqKey="Durda K" first="Katarzyna" last="Durda">Katarzyna Durda</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name><affiliation><nlm:aff id="Aff133"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0640 0021</institution-id><institution-id institution-id-type="GRID">grid.14013.37</institution-id><institution>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine,</institution><institution>University of Iceland,</institution></institution-wrap>Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Maugard, Christine" sort="Maugard, Christine" uniqKey="Maugard C" first="Christine" last="Maugard">Christine Maugard</name><affiliation><nlm:aff id="Aff134"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoire de diagnostic génétique et Service d’Onco-hématologie,</institution><institution>Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="Aff135"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9471 1794</institution-id><institution-id institution-id-type="GRID">grid.411081.d</institution-id><institution></institution><institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University,</institution></institution-wrap>Quebec City, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="Aff136"><institution-wrap><institution-id institution-id-type="GRID">grid.414603.4</institution-id><institution></institution><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS,</institution></institution-wrap>Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="Aff136"><institution-wrap><institution-id institution-id-type="GRID">grid.414603.4</institution-id><institution></institution><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS,</institution></institution-wrap>Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Teixeira, Manuel R" sort="Teixeira, Manuel R" uniqKey="Teixeira M" first="Manuel R" last="Teixeira">Manuel R. Teixeira</name><affiliation><nlm:aff id="Aff137"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0631 0608</institution-id><institution-id institution-id-type="GRID">grid.418711.a</institution-id><institution>Department of Genetics,</institution><institution>Portuguese Oncology Institute,</institution></institution-wrap>Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="Aff139"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8875 6339</institution-id><institution-id institution-id-type="GRID">grid.417468.8</institution-id><institution></institution><institution>Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Scottsdale, AZ USA</nlm:aff></affiliation></author><author><name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S" last="Pankratz">Vernon S. Pankratz</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="Aff140"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I" last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="Aff141"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2233 9230</institution-id><institution-id institution-id-type="GRID">grid.280128.1</institution-id><institution></institution><institution>National Human Genome Research Institute, National Institutes of Health,</institution></institution-wrap>Bethesda, MD USA</nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Jacobs, Lauren" sort="Jacobs, Lauren" uniqKey="Jacobs L" first="Lauren" last="Jacobs">Lauren Jacobs</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Corines, Marina" sort="Corines, Marina" uniqKey="Corines M" first="Marina" last="Corines">Marina Corines</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Lincoln, Anne" sort="Lincoln, Anne" uniqKey="Lincoln A" first="Anne" last="Lincoln">Anne Lincoln</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Berger, Andreas" sort="Berger, Andreas" uniqKey="Berger A" first="Andreas" last="Berger">Andreas Berger</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Fink Retter, Anneliese" sort="Fink Retter, Anneliese" uniqKey="Fink Retter A" first="Anneliese" last="Fink-Retter">Anneliese Fink-Retter</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F" last="Singer">Christian F. Singer</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Kaulich, Daphne Gschwantler" sort="Kaulich, Daphne Gschwantler" uniqKey="Kaulich D" first="Daphne Gschwantler" last="Kaulich">Daphne Gschwantler Kaulich</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Pfeiler, Georg" sort="Pfeiler, Georg" uniqKey="Pfeiler G" first="Georg" last="Pfeiler">Georg Pfeiler</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Tea, Muy Kheng" sort="Tea, Muy Kheng" uniqKey="Tea M" first="Muy-Kheng" last="Tea">Muy-Kheng Tea</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M" last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="Aff144"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9891 5233</institution-id><institution-id institution-id-type="GRID">grid.468198.a</institution-id><institution></institution><institution>Department of Cancer Epidemiology, Moffitt Cancer Center,</institution></institution-wrap>Tampa, FL USA</nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L" last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="Aff145"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8075</institution-id><institution-id institution-id-type="GRID">grid.48336.3a</institution-id><institution></institution><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health,</institution></institution-wrap>Rockville, MD USA</nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H" last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="Aff145"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8075</institution-id><institution-id institution-id-type="GRID">grid.48336.3a</institution-id><institution></institution><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health,</institution></institution-wrap>Rockville, MD USA</nlm:aff></affiliation></author><author><name sortKey="Rennert, Gad" sort="Rennert, Gad" uniqKey="Rennert G" first="Gad" last="Rennert">Gad Rennert</name><affiliation><nlm:aff id="Aff146"><institution-wrap><institution-id institution-id-type="ISNI">0000000121102151</institution-id><institution-id institution-id-type="GRID">grid.6451.6</institution-id><institution></institution><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine,</institution></institution-wrap>Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Imyanitov, Evgeny N" sort="Imyanitov, Evgeny N" uniqKey="Imyanitov E" first="Evgeny N" last="Imyanitov">Evgeny N. Imyanitov</name><affiliation><nlm:aff id="Aff147"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9341 0551</institution-id><institution-id institution-id-type="GRID">grid.465337.0</institution-id><institution></institution><institution>NN Petrov Institute of Oncology,</institution></institution-wrap>St Petersburg, Russia</nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="Aff148"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0473 9881</institution-id><institution-id institution-id-type="GRID">grid.416166.2</institution-id><institution>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute,</institution><institution>Mount Sinai Hospital, Cancer Care Ontario,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="Aff149"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center,</institution><institution>The Ohio State University,</institution></institution-wrap>Columbus, OH USA</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="Aff150"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 5814</institution-id><institution-id institution-id-type="GRID">grid.417271.6</institution-id><institution>Department of Clinical Genetics,</institution><institution>Vejle Hospital,</institution></institution-wrap>Vejle, Denmark</nlm:aff></affiliation></author><author><name sortKey="Pedersen, Inge Sokilde" sort="Pedersen, Inge Sokilde" uniqKey="Pedersen I" first="Inge Sokilde" last="Pedersen">Inge Sokilde Pedersen</name><affiliation><nlm:aff id="Aff151"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7349</institution-id><institution-id institution-id-type="GRID">grid.27530.33</institution-id><institution>Section of Molecular Diagnostics, Department of Biochemistry,</institution><institution>Aalborg University Hospital,</institution></institution-wrap>Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation><nlm:aff id="Aff152"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 597X</institution-id><institution-id institution-id-type="GRID">grid.154185.c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Aarhus University Hospital,</institution></institution-wrap>Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria A" sort="Caligo, Maria A" uniqKey="Caligo M" first="Maria A" last="Caligo">Maria A. Caligo</name><affiliation><nlm:aff id="Aff153"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 8209</institution-id><institution-id institution-id-type="GRID">grid.144189.1</institution-id><institution>Section of Genetic Oncology, Department of Laboratory Medicine,</institution><institution>University and University Hospital of Pisa,</institution></institution-wrap>Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Berger, Raanan" sort="Berger, Raanan" uniqKey="Berger R" first="Raanan" last="Berger">Raanan Berger</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Laitman, Yael" sort="Laitman, Yael" uniqKey="Laitman Y" first="Yael" last="Laitman">Yael Laitman</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="Aff155"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="Aff156"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Oncology,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="Aff157"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Oncology,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Borg, Ake" sort="Borg, Ake" uniqKey="Borg A" first="Ake" last="Borg">Ake Borg</name><affiliation><nlm:aff id="Aff158"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Oncology,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="Aff161"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8736 9513</institution-id><institution-id institution-id-type="GRID">grid.412578.d</institution-id><institution>Center for Clinical Cancer Genetics and Global Health,</institution><institution>University of Chicago Medical Center,</institution></institution-wrap>Chicago, IL USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff162"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I" last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="Aff163">5841 South Maryland Avenue, Chicago, MC, 2115 IL USA</nlm:aff></affiliation></author><author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name><affiliation><nlm:aff id="Aff135"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9471 1794</institution-id><institution-id institution-id-type="GRID">grid.411081.d</institution-id><institution></institution><institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University,</institution></institution-wrap>Quebec City, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute,</institution></institution-wrap>Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C" last="Antoniou">Antonis C. Antoniou</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25919761</idno><idno type="pmc">4406179</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179</idno><idno type="RBID">PMC:4406179</idno><idno type="doi">10.1186/s13058-014-0492-9</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000B39</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000B39</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</title><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B" last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L" last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Department of Population Sciences, Beckman Research Institute of City of Hope,</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2157 2938</institution-id><institution-id institution-id-type="GRID">grid.17063.33</institution-id><institution>Department of Laboratory Medicine and Pathobiology,</institution><institution>University of Toronto,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0474 0428</institution-id><institution-id institution-id-type="GRID">grid.231844.8</institution-id><institution>Laboratory Medicine Program,</institution><institution>University Health Network,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L" last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0473 9881</institution-id><institution-id institution-id-type="GRID">grid.416166.2</institution-id><institution></institution><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2157 2938</institution-id><institution-id institution-id-type="GRID">grid.17063.33</institution-id><institution>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology,</institution><institution>University of Toronto,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute,</institution></institution-wrap>Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K" last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>Division of Psychosocial Research and Epidemiology, Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K" last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne, on behalf of the German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC),</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2230 9752</institution-id><institution-id institution-id-type="GRID">grid.9647.c</institution-id><institution>Institute for Medical Informatics,</institution><institution>Statistics and Epidemiology University of Leipzig,</institution></institution-wrap>Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0410 2071</institution-id><institution-id institution-id-type="GRID">grid.7737.4</institution-id><institution>Department of Obstetrics and Gynecology,</institution><institution>University of Helsinki and Helsinki University Central Hospital,</institution></institution-wrap>Helsinki, HUS Finland</nlm:aff></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:aff id="Aff16"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 5013</institution-id><institution-id institution-id-type="GRID">grid.7143.1</institution-id><institution>Department of Clinical Genetics,</institution><institution>Odense University Hospital,</institution></institution-wrap>Odense C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Pathology, Genetic Epidemiology Laboratory,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, Australia</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="Aff18"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Department of Preventive and Predictive Medicine, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J" last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2156 6853</institution-id><institution-id institution-id-type="GRID">grid.42505.36</institution-id><institution>Department of Preventive Medicine, Keck School of Medicine,</institution><institution>University of Southern California,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M" last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L" last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Lee, Andrew" sort="Lee, Andrew" uniqKey="Lee A" first="Andrew" last="Lee">Andrew Lee</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="Aff21"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics & Computational Biology, Queensland Institute of Medical Research, Herston,</institution></institution-wrap>Australia</nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L" last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="Aff22"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2297 6811</institution-id><institution-id institution-id-type="GRID">grid.266102.1</institution-id><institution>Department of Medicine and Institute for Human Genetics,</institution><institution>University of California,</institution></institution-wrap>San Francisco, CA USA</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R" last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="Aff23"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K" last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="Aff24"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2291 4776</institution-id><institution-id institution-id-type="GRID">grid.240145.6</institution-id><institution></institution><institution>University of Texas MD Anderson Cancer Center,</institution></institution-wrap>Houston, TX USA</nlm:aff></affiliation></author><author><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name><affiliation><nlm:aff id="Aff25"><institution-wrap><institution-id institution-id-type="ISNI">0000000403978434</institution-id><institution-id institution-id-type="GRID">grid.1055.1</institution-id><institution></institution><institution>Familial Cancer Centre, Peter MacCallum Cancer Centre,</institution></institution-wrap>Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff26"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Sir Peter MacCallum Department of Oncology,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, Australia</nlm:aff></affiliation></author><author><name sortKey="Karlan, Beth Y" sort="Karlan, Beth Y" uniqKey="Karlan B" first="Beth Y" last="Karlan">Beth Y. Karlan</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Lester, Jenny" sort="Lester, Jenny" uniqKey="Lester J" first="Jenny" last="Lester">Jenny Lester</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Cass, Ilana" sort="Cass, Ilana" uniqKey="Cass I" first="Ilana" last="Cass">Ilana Cass</name><affiliation><nlm:aff id="Aff27"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</nlm:aff></affiliation></author><author><name sortKey="Registry, Breast Cancer Family" sort="Registry, Breast Cancer Family" uniqKey="Registry B" first="Breast Cancer Family" last="Registry">Breast Cancer Family Registry</name><affiliation><nlm:aff id="Aff28"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0498 8300</institution-id><institution-id institution-id-type="GRID">grid.280669.3</institution-id><institution></institution><institution>Department of Epidemiology, Cancer Prevention Institute of California,</institution></institution-wrap>Fremont, CA USA</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="Aff29"><institution-wrap><institution-id institution-id-type="ISNI">0000000419368729</institution-id><institution-id institution-id-type="GRID">grid.21729.3f</institution-id><institution>Department of Epidemiology,</institution><institution>Columbia University,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Daly, Mary B" sort="Daly, Mary B" uniqKey="Daly M" first="Mary B" last="Daly">Mary B. Daly</name><affiliation><nlm:aff id="Aff30"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0456 6466</institution-id><institution-id institution-id-type="GRID">grid.412530.1</institution-id><institution></institution><institution>Fox Chase Cancer Center,</institution></institution-wrap>Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="Aff31"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of Dermatology,</institution><institution>University of Utah School of Medicine,</institution></institution-wrap>Salt Lake City, UT USA</nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S" last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="Aff32"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of Oncological Sciences, Huntsman Cancer Institute,</institution><institution>University of Utah School of Medicine,</institution></institution-wrap>Salt Lake City, UT USA</nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="Aff33"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0567 3159</institution-id><institution-id institution-id-type="GRID">grid.426597.b</institution-id><institution>Department of Molecular and Regenerative Medicine,</institution><institution>Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center,</institution></institution-wrap>Vilnius, Lithuania</nlm:aff></affiliation><affiliation><nlm:aff id="Aff34">State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania</nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="Aff35"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 4648 9892</institution-id><institution-id institution-id-type="GRID">grid.419210.f</institution-id><institution></institution><institution>Latvian Biomedical Research and Study Centre,</institution></institution-wrap>Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Tung, Nadine" sort="Tung, Nadine" uniqKey="Tung N" first="Nadine" last="Tung">Nadine Tung</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9011 8547</institution-id><institution-id institution-id-type="GRID">grid.239395.7</institution-id><institution></institution><institution>Department of Medical Oncology, Beth Israel Deaconess Medical Center,</institution></institution-wrap>Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M" last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2298</institution-id><institution-id institution-id-type="GRID">grid.49697.35</institution-id><institution>Department of Genetics,</institution><institution>University of Pretoria,</institution></institution-wrap>Pretoria, South Africa</nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elizabeth J" sort="Van Rensburg, Elizabeth J" uniqKey="Van Rensburg E" first="Elizabeth J" last="Van Rensburg">Elizabeth J. Van Rensburg</name><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2298</institution-id><institution-id institution-id-type="GRID">grid.49697.35</institution-id><institution>Department of Genetics,</institution><institution>University of Pretoria,</institution></institution-wrap>Pretoria, South Africa</nlm:aff></affiliation></author><author><name sortKey="Steele, Linda" sort="Steele, Linda" uniqKey="Steele L" first="Linda" last="Steele">Linda Steele</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Department of Population Sciences, Beckman Research Institute of City of Hope,</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="V O Hansen, Thomas" sort="V O Hansen, Thomas" uniqKey="V O Hansen T" first="Thomas" last="V O Hansen">Thomas V O Hansen</name><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Center for Genomic Medicine, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Department of Oncology, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation><nlm:aff id="Aff40"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Department of Clinical Genetics, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Finn C" sort="Nielsen, Finn C" uniqKey="Nielsen F" first="Finn C" last="Nielsen">Finn C. Nielsen</name><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7373</institution-id><institution-id institution-id-type="GRID">grid.4973.9</institution-id><institution>Center for Genomic Medicine, Rigshospitalet,</institution><institution>Copenhagen University Hospital,</institution></institution-wrap>Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie" sort="Cunningham, Julie" uniqKey="Cunningham J" first="Julie" last="Cunningham">Julie Cunningham</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Hart, Steven" sort="Hart, Steven" uniqKey="Hart S" first="Steven" last="Hart">Steven Hart</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="Aff43"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8700 1153</institution-id><institution-id institution-id-type="GRID">grid.7719.8</institution-id><institution></institution><institution>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases (CIBERER),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="Aff44"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8700 1153</institution-id><institution-id institution-id-type="GRID">grid.7719.8</institution-id><institution></institution><institution>Human Genetics Group and Genotyping Unit, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases (CIBERER),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Duran, Mercedes" sort="Duran, Mercedes" uniqKey="Duran M" first="Mercedes" last="Duran">Mercedes Duran</name><affiliation><nlm:aff id="Aff45"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2286 5329</institution-id><institution-id institution-id-type="GRID">grid.5239.d</institution-id><institution>Institute of Biology and Molecular Genetics,</institution><institution>Universidad de Valladolid (IBGM-UVA),</institution></institution-wrap>Valladolid, Spain</nlm:aff></affiliation></author><author><name sortKey="Weitzel, Jeffrey N" sort="Weitzel, Jeffrey N" uniqKey="Weitzel J" first="Jeffrey N" last="Weitzel">Jeffrey N. Weitzel</name><affiliation><nlm:aff id="Aff46"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Clinical Cancer Genetics, City of Hope (for the City of Hope Clinical Cancer Genetics Community Research Network),</institution></institution-wrap>Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Tafur, Isaac" sort="Tafur, Isaac" uniqKey="Tafur I" first="Isaac" last="Tafur">Isaac Tafur</name><affiliation><nlm:aff id="Aff47">Covenant Health Joe Arrington Cancer Research Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Hander, Mary" sort="Hander, Mary" uniqKey="Hander M" first="Mary" last="Hander">Mary Hander</name><affiliation><nlm:aff id="Aff48">Kootenai Cancer Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="Aff49"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Roversi, Gaia" sort="Roversi, Gaia" uniqKey="Roversi G" first="Gaia" last="Roversi">Gaia Roversi</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Scuvera, Giulietta" sort="Scuvera, Giulietta" uniqKey="Scuvera G" first="Giulietta" last="Scuvera">Giulietta Scuvera</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="Aff51"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 0843</institution-id><institution-id institution-id-type="GRID">grid.15667.33</institution-id><institution></institution><institution>Division of Cancer Prevention and Genetics, European Institute of Oncology,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Mariani, Paolo" sort="Mariani, Paolo" uniqKey="Mariani P" first="Paolo" last="Mariani">Paolo Mariani</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory,</institution></institution-wrap>Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 9741</institution-id><institution-id institution-id-type="GRID">grid.418321.d</institution-id><institution></institution><institution>Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS,</institution></institution-wrap>Aviano, PN Italy</nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 7871</institution-id><institution-id institution-id-type="GRID">grid.410345.7</institution-id><institution></institution><institution>Unit of Hereditary Cancer, IRCCS AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro,</institution></institution-wrap>Genoa, Italy</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="Aff55"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 2304</institution-id><institution-id institution-id-type="GRID">grid.8404.8</institution-id><institution>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences,</institution><institution>University of Florence,</institution></institution-wrap>Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="Aff56"><institution-wrap><institution-id institution-id-type="GRID">grid.412972.b</institution-id><institution></institution><institution>Ospedale di Circolo e Fondazione Macchi Polo Universitario,</institution></institution-wrap>Varese, Italy</nlm:aff></affiliation></author><author><name sortKey="Giannini, Giuseppe" sort="Giannini, Giuseppe" uniqKey="Giannini G" first="Giuseppe" last="Giannini">Giuseppe Giannini</name><affiliation><nlm:aff id="Aff57"><institution-wrap><institution-id institution-id-type="GRID">grid.7841.a</institution-id><institution>Department of Molecular Medicine,</institution><institution>University La Sapienza,</institution></institution-wrap>Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="Aff58"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0635 6999</institution-id><institution-id institution-id-type="GRID">grid.6083.d</institution-id><institution></institution><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Aghia Paraskevi Attikis,</institution></institution-wrap>Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="Aff58"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0635 6999</institution-id><institution-id institution-id-type="GRID">grid.6083.d</institution-id><institution></institution><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Aghia Paraskevi Attikis,</institution></institution-wrap>Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Garber, Judy" sort="Garber, Judy" uniqKey="Garber J" first="Judy" last="Garber">Judy Garber</name><affiliation><nlm:aff id="Aff59"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 9910</institution-id><institution-id institution-id-type="GRID">grid.65499.37</institution-id><institution></institution><institution>Dana-Farber Cancer Institute,</institution></institution-wrap>Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="Aff60"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0492 0584</institution-id><institution-id institution-id-type="GRID">grid.7497.d</institution-id><institution></institution><institution>Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ),</institution></institution-wrap>Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Donaldson, Alan" sort="Donaldson, Alan" uniqKey="Donaldson A" first="Alan" last="Donaldson">Alan Donaldson</name><affiliation><nlm:aff id="Aff61"><institution-wrap><institution-id institution-id-type="GRID">grid.416544.6</institution-id><institution>Clinical Genetics Department,</institution><institution>St Michael’s Hospital,</institution></institution-wrap>Bristol, UK</nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="Aff62"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8527 9995</institution-id><institution-id institution-id-type="GRID">grid.416118.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Royal Devon and Exeter Hospital,</institution></institution-wrap>Exeter, UK</nlm:aff></affiliation></author><author><name sortKey="Foo, Claire" sort="Foo, Claire" uniqKey="Foo C" first="Claire" last="Foo">Claire Foo</name><affiliation><nlm:aff id="Aff63"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 1251</institution-id><institution-id institution-id-type="GRID">grid.419317.9</institution-id><institution></institution><institution>Cheshire and Merseyside Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust,</institution></institution-wrap>Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D Gareth" last="Evans">D Gareth Evans</name><affiliation><nlm:aff id="Aff64"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0430 9101</institution-id><institution-id institution-id-type="GRID">grid.411037.0</institution-id><institution></institution><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust,</institution></institution-wrap>Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="Aff65"><institution-wrap><institution-id institution-id-type="GRID">grid.430506.4</institution-id><institution></institution><institution>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust,</institution></institution-wrap>Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Douglas, Fiona" sort="Douglas, Fiona" uniqKey="Douglas F" first="Fiona" last="Douglas">Fiona Douglas</name><affiliation><nlm:aff id="Aff66">Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK</nlm:aff></affiliation></author><author><name sortKey="Brady, Angela" sort="Brady, Angela" uniqKey="Brady A" first="Angela" last="Brady">Angela Brady</name><affiliation><nlm:aff id="Aff67">North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="Aff68"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 6082</institution-id><institution-id institution-id-type="GRID">grid.413991.7</institution-id><institution>Sheffield Clinical Genetics Service,</institution><institution>Sheffield Children’s Hospital,</institution></institution-wrap>Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="Aff69"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0622 5016</institution-id><institution-id institution-id-type="GRID">grid.120073.7</institution-id><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service,</institution><institution>Addenbrookes Hospital,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="Aff70">Yorkshire Regional Genetics Service, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Barwell, Julian" sort="Barwell, Julian" uniqKey="Barwell J" first="Julian" last="Barwell">Julian Barwell</name><affiliation><nlm:aff id="Aff71"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0435 9078</institution-id><institution-id institution-id-type="GRID">grid.269014.8</institution-id><institution>Leicestershire Clinical Genetics Service,</institution><institution>University Hospitals of Leicester NHS Trust,</institution></institution-wrap>Leicester, UK</nlm:aff></affiliation></author><author><name sortKey="Ong, Kai Ren" sort="Ong, Kai Ren" uniqKey="Ong K" first="Kai-Ren" last="Ong">Kai-Ren Ong</name><affiliation><nlm:aff id="Aff72">West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham UK</nlm:aff></affiliation></author><author><name sortKey="Walker, Lisa" sort="Walker, Lisa" uniqKey="Walker L" first="Lisa" last="Walker">Lisa Walker</name><affiliation><nlm:aff id="Aff73"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0488 9484</institution-id><institution-id institution-id-type="GRID">grid.415719.f</institution-id><institution>Oxford Regional Genetics Service,</institution><institution>Churchill Hospital,</institution></institution-wrap>Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="Aff74"><institution-wrap><institution-id institution-id-type="GRID">grid.420545.2</institution-id><institution></institution><institution>Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Side, Lucy E" sort="Side, Lucy E" uniqKey="Side L" first="Lucy E" last="Side">Lucy E. Side</name><affiliation><nlm:aff id="Aff75"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0426 7394</institution-id><institution-id institution-id-type="GRID">grid.424537.3</institution-id><institution></institution><institution>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Kennedy, M John" sort="Kennedy, M John" uniqKey="Kennedy M" first="M John" last="Kennedy">M John Kennedy</name><affiliation><nlm:aff id="Aff76"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9705</institution-id><institution-id institution-id-type="GRID">grid.8217.c</institution-id><institution>Academic Unit of Clinical and Molecular Oncology,</institution><institution>Trinity College Dublin and St James’s Hospital,</institution></institution-wrap>Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Rogers, Mark T" sort="Rogers, Mark T" uniqKey="Rogers M" first="Mark T" last="Rogers">Mark T. Rogers</name><affiliation><nlm:aff id="Aff77"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0169 7725</institution-id><institution-id institution-id-type="GRID">grid.241103.5</institution-id><institution>All Wales Medical Genetics Services,</institution><institution>University Hospital of Wales,</institution></institution-wrap>Cardiff, UK</nlm:aff></affiliation></author><author><name sortKey="Porteous, Mary E" sort="Porteous, Mary E" uniqKey="Porteous M" first="Mary E" last="Porteous">Mary E. Porteous</name><affiliation><nlm:aff id="Aff78"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0624 9907</institution-id><institution-id institution-id-type="GRID">grid.417068.c</institution-id><institution>South East of Scotland Regional Genetics Service,</institution><institution>Western General Hospital,</institution></institution-wrap>Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Morrison, Patrick J" sort="Morrison, Patrick J" uniqKey="Morrison P" first="Patrick J" last="Morrison">Patrick J. Morrison</name><affiliation><nlm:aff id="Aff79"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0374 7521</institution-id><institution-id institution-id-type="GRID">grid.4777.3</institution-id><institution>Department of Medical Genetics, Belfast Health and Social Care Trust, Centre for Cancer Research & Cell Biology,</institution><institution>Queen’s University Belfast,</institution></institution-wrap>Belfast, UK</nlm:aff></affiliation></author><author><name sortKey="Platte, Radka" sort="Platte, Radka" uniqKey="Platte R" first="Radka" last="Platte">Radka Platte</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="Aff80"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0304 893X</institution-id><institution-id institution-id-type="GRID">grid.5072.0</institution-id><institution></institution><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="Aff81"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 4685 794X</institution-id><institution-id institution-id-type="GRID">grid.415571.3</institution-id><institution>Ferguson-Smith Centre for Clinical Genetics,</institution><institution>Yorkhill Hospitals,</institution></institution-wrap>Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="Aff82"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2161 2573</institution-id><institution-id institution-id-type="GRID">grid.4464.2</institution-id><institution>Medical Genetics Unit, St George’s,</institution><institution>University of London,</institution></institution-wrap>London, UK</nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K" last="Godwin">Andrew K. Godwin</name><affiliation><nlm:aff id="Aff83"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 6375</institution-id><institution-id institution-id-type="GRID">grid.412016.0</institution-id><institution>Department of Pathology and Laboratory Medicine,</institution><institution>University of Kansas Medical Center,</institution></institution-wrap>Kansas City, KS USA</nlm:aff></affiliation></author><author><name sortKey="Rhiem, Kerstin" sort="Rhiem, Kerstin" uniqKey="Rhiem K" first="Kerstin" last="Rhiem">Kerstin Rhiem</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8580 3777</institution-id><institution-id institution-id-type="GRID">grid.6190.e</institution-id><institution>Center for Molecular Medicine Cologne (CMMC),</institution><institution>University of Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="Aff84"><institution-wrap><institution-id institution-id-type="ISNI">0000000123222966</institution-id><institution-id institution-id-type="GRID">grid.6936.a</institution-id><institution>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar,</institution><institution>Technical University of Munich,</institution></institution-wrap>Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="Aff85"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id><institution-id institution-id-type="GRID">grid.5252.0</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Munich,</institution></institution-wrap>Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="Aff86"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 2097</institution-id><institution-id institution-id-type="GRID">grid.412468.d</institution-id><institution></institution><institution>University Hospital of Schleswig-Holstein/University Kiel,</institution></institution-wrap>Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Plendl, Hansjoerg" sort="Plendl, Hansjoerg" uniqKey="Plendl H" first="Hansjoerg" last="Plendl">Hansjoerg Plendl</name><affiliation><nlm:aff id="Aff87">Institute of Human Genetics, University Hospital of Schleswig-Holstein, University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Niederacher, Dieter" sort="Niederacher, Dieter" uniqKey="Niederacher D" first="Dieter" last="Niederacher">Dieter Niederacher</name><affiliation><nlm:aff id="Aff88"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2176 9917</institution-id><institution-id institution-id-type="GRID">grid.411327.2</institution-id><institution></institution><institution>University Düsseldorf,</institution></institution-wrap>Dusseldorf, Germany</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="Aff89"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2190 4373</institution-id><institution-id institution-id-type="GRID">grid.7700.0</institution-id><institution></institution><institution>University Heidelberg,</institution></institution-wrap>Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="Aff90"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9529 9877</institution-id><institution-id institution-id-type="GRID">grid.10423.34</institution-id><institution></institution><institution>Hannover Medical School,</institution></institution-wrap>Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Bogdanova Markov, Nadja" sort="Bogdanova Markov, Nadja" uniqKey="Bogdanova Markov N" first="Nadja" last="Bogdanova-Markov">Nadja Bogdanova-Markov</name><affiliation><nlm:aff id="Aff91"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2240 3300</institution-id><institution-id institution-id-type="GRID">grid.10388.32</institution-id><institution></institution><institution>Institute of Human Genetics,</institution></institution-wrap>Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Kast, Karin" sort="Kast, Karin" uniqKey="Kast K" first="Karin" last="Kast">Karin Kast</name><affiliation><nlm:aff id="Aff92"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2111 7257</institution-id><institution-id institution-id-type="GRID">grid.4488.0</institution-id><institution></institution><institution>University Dresden,</institution></institution-wrap>Dresden, Germany</nlm:aff></affiliation></author><author><name sortKey="Varon Mateeva, Raymonda" sort="Varon Mateeva, Raymonda" uniqKey="Varon Mateeva R" first="Raymonda" last="Varon-Mateeva">Raymonda Varon-Mateeva</name><affiliation><nlm:aff id="Aff93">Institute of Medical Genetics and Human Genetics, Charité, Berlin Germany</nlm:aff></affiliation></author><author><name sortKey="Wang Gohrke, Shan" sort="Wang Gohrke, Shan" uniqKey="Wang Gohrke S" first="Shan" last="Wang-Gohrke">Shan Wang-Gohrke</name><affiliation><nlm:aff id="Aff94"><institution-wrap><institution-id institution-id-type="GRID">grid.410712.1</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Hospital Ulm,</institution></institution-wrap>Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation><nlm:aff id="Aff95"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1958 8658</institution-id><institution-id institution-id-type="GRID">grid.8379.5</institution-id><institution>Institute of Human Genetics,</institution><institution>University Wurzburg,</institution></institution-wrap>Wurzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Markiefka, Birgid" sort="Markiefka, Birgid" uniqKey="Markiefka B" first="Birgid" last="Markiefka">Birgid Markiefka</name><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8852 305X</institution-id><institution-id institution-id-type="GRID">grid.411097.a</institution-id><institution>Center for Integrated Oncology (CIO), Medical Faculty,</institution><institution>University Hospital Cologne,</institution></institution-wrap>Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lefol, Cedrick" sort="Lefol, Cedrick" uniqKey="Lefol C" first="Cédrick" last="Lefol">Cédrick Lefol</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff97"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Institut Curie, INSERM U830,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff98"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution></institution><institution>Université Paris Descartes,</institution></institution-wrap>Sorbonne Paris Cité, Paris France</nlm:aff></affiliation></author><author><name sortKey="Rouleau, Etienne" sort="Rouleau, Etienne" uniqKey="Rouleau E" first="Etienne" last="Rouleau">Etienne Rouleau</name><affiliation><nlm:aff id="Aff99"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0099 404X</institution-id><institution-id institution-id-type="GRID">grid.418205.a</institution-id><institution>Laboratoire d’Oncogénétique,</institution><institution>Hôpital René Huguenin, Institut Curie,</institution></institution-wrap>Saint-Cloud, France</nlm:aff></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:aff id="Aff100">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de St Etienne, St Etienne, France</nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="Aff103"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Centre de Génétique, CHU Dijon,</institution><institution>Université de Bourgogne,</institution></institution-wrap>Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff104"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 1257</institution-id><institution-id institution-id-type="GRID">grid.418037.9</institution-id><institution></institution><institution>Centre Georges François Leclerc,</institution></institution-wrap>Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name><affiliation><nlm:aff id="Aff105"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 639X</institution-id><institution-id institution-id-type="GRID">grid.412041.2</institution-id><institution>Cancer Genetics Unit, INSERM U916, Institut Bergonié,</institution><institution>Université de Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Sevenet, Nicolas" sort="Sevenet, Nicolas" uniqKey="Sevenet N" first="Nicolas" last="Sevenet">Nicolas Sevenet</name><affiliation><nlm:aff id="Aff105"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 639X</institution-id><institution-id institution-id-type="GRID">grid.412041.2</institution-id><institution>Cancer Genetics Unit, INSERM U916, Institut Bergonié,</institution><institution>Université de Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M" last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff106">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="Aff101"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Bonadona, Valerie" sort="Bonadona, Valerie" uniqKey="Bonadona V" first="Valérie" last="Bonadona">Valérie Bonadona</name><affiliation><nlm:aff id="Aff107"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 7757</institution-id><institution-id institution-id-type="GRID">grid.7849.2</institution-id><institution></institution><institution>Université Lyon 1, CNRS UMR5558,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff108"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0200 3174</institution-id><institution-id institution-id-type="GRID">grid.418116.b</institution-id><institution></institution><institution>Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard,</institution></institution-wrap>Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Caux Moncoutier, Virginie" sort="Caux Moncoutier, Virginie" uniqKey="Caux Moncoutier V" first="Virginie" last="Caux-Moncoutier">Virginie Caux-Moncoutier</name><affiliation><nlm:aff id="Aff96"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Isaacs, Claudine" sort="Isaacs, Claudine" uniqKey="Isaacs C" first="Claudine" last="Isaacs">Claudine Isaacs</name><affiliation><nlm:aff id="Aff109"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1955 1644</institution-id><institution-id institution-id-type="GRID">grid.213910.8</institution-id><institution>Lombardi Comprehensive Cancer Center,</institution><institution>Georgetown University,</institution></institution-wrap>Washington, DC USA</nlm:aff></affiliation></author><author><name sortKey="Van Maerken, Tom" sort="Van Maerken, Tom" uniqKey="Van Maerken T" first="Tom" last="Van Maerken">Tom Van Maerken</name><affiliation><nlm:aff id="Aff110"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2069 7798</institution-id><institution-id institution-id-type="GRID">grid.5342.0</institution-id><institution>Center for Medical Genetics,</institution><institution>Ghent University,</institution></institution-wrap>Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><nlm:aff id="Aff110"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2069 7798</institution-id><institution-id institution-id-type="GRID">grid.5342.0</institution-id><institution>Center for Medical Genetics,</institution><institution>Ghent University,</institution></institution-wrap>Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name><affiliation><nlm:aff id="Aff111"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2181 8635</institution-id><institution-id institution-id-type="GRID">grid.240614.5</institution-id><institution></institution><institution>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute,</institution></institution-wrap>Buffalo, NY USA</nlm:aff></affiliation></author><author><name sortKey="Andrews, Lesley" sort="Andrews, Lesley" uniqKey="Andrews L" first="Lesley" last="Andrews">Lesley Andrews</name><affiliation><nlm:aff id="Aff112"><institution-wrap><institution-id institution-id-type="GRID">grid.415193.b</institution-id><institution>ANZGOG Australia, New Zealand Gynaecological Oncology Group,</institution><institution>Prince of Wales Hospital,</institution></institution-wrap>Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Hays, John" sort="Hays, John" uniqKey="Hays J" first="John" last="Hays">John Hays</name><affiliation><nlm:aff id="Aff113"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution></institution><institution>The Ohio State University, Columbus Cancer Council,</institution></institution-wrap>Columbus, OH USA</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo C" sort="Rodriguez, Gustavo C" uniqKey="Rodriguez G" first="Gustavo C" last="Rodriguez">Gustavo C. Rodriguez</name><affiliation><nlm:aff id="Aff114"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0400 4439</institution-id><institution-id institution-id-type="GRID">grid.240372.0</institution-id><institution>Division of Gynecologic Oncology,</institution><institution>NorthShore University HealthSystem,</institution></institution-wrap>Evanston, IL USA</nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="Aff115"><institution-wrap><institution-id institution-id-type="GRID">grid.414780.e</institution-id><institution></institution><institution>Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos (IdISSC),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="Aff115"><institution-wrap><institution-id institution-id-type="GRID">grid.414780.e</institution-id><institution></institution><institution>Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos (IdISSC),</institution></institution-wrap>Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0410 2071</institution-id><institution-id institution-id-type="GRID">grid.7737.4</institution-id><institution>Department of Obstetrics and Gynecology,</institution><institution>University of Helsinki and Helsinki University Central Hospital,</institution></institution-wrap>Helsinki, HUS Finland</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans Bl" sort="Hogervorst, Frans Bl" uniqKey="Hogervorst F" first="Frans Bl" last="Hogervorst">Frans Bl Hogervorst</name><affiliation><nlm:aff id="Aff116"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>Family Cancer Clinic, Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Aalfs, Cora M" sort="Aalfs, Cora M" uniqKey="Aalfs C" first="Cora M" last="Aalfs">Cora M. Aalfs</name><affiliation><nlm:aff id="Aff117"><institution-wrap><institution-id institution-id-type="ISNI">0000000404654431</institution-id><institution-id institution-id-type="GRID">grid.5650.6</institution-id><institution></institution><institution>Department of Clinical Genetics, Academic Medical Center,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Lange, Jl" sort="De Lange, Jl" uniqKey="De Lange J" first="Jl" last="De Lange">Jl De Lange</name><affiliation><nlm:aff id="Aff118"><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution>Department of Epidemiology,</institution><institution>Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne Ej" sort="Meijers Heijboer, Hanne Ej" uniqKey="Meijers Heijboer H" first="Hanne Ej" last="Meijers-Heijboer">Hanne Ej Meijers-Heijboer</name><affiliation><nlm:aff id="Aff119"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0435 165X</institution-id><institution-id institution-id-type="GRID">grid.16872.3a</institution-id><institution></institution><institution>Department of Clinical Genetics, VU University Medical Centre,</institution></institution-wrap>Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><nlm:aff id="Aff120"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0407 1981</institution-id><institution-id institution-id-type="GRID">grid.4830.f</institution-id><institution>Department of Genetics, University Medical Center,</institution><institution>Groningen University,</institution></institution-wrap>Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T" last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="Aff121"><institution-wrap><institution-id institution-id-type="ISNI">0000000089452978</institution-id><institution-id institution-id-type="GRID">grid.10419.3d</institution-id><institution>Department of Human Genetics and Department of Clinical Genetics,</institution><institution>Leiden University Medical Center,</institution></institution-wrap>Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Roozendaal, Kep" sort="Van Roozendaal, Kep" uniqKey="Van Roozendaal K" first="Kep" last="Van Roozendaal">Kep Van Roozendaal</name><affiliation><nlm:aff id="Aff122"><institution-wrap><institution-id institution-id-type="GRID">grid.412966.e</institution-id><institution>Department of Clinical Genetics,</institution><institution>Maastricht University Medical Center,</institution></institution-wrap>Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R" last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation><nlm:aff id="Aff123"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0444 9382</institution-id><institution-id institution-id-type="GRID">grid.10417.33</institution-id><institution>Department of Human Genetics,</institution><institution>Radboud University Nijmegen Medical Centre,</institution></institution-wrap>Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans Mw" sort="Van Den Ouweland, Ans Mw" uniqKey="Van Den Ouweland A" first="Ans Mw" last="Van Den Ouweland">Ans Mw Van Den Ouweland</name><affiliation><nlm:aff id="Aff124"><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Clinical Genetics,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Deurzen, Carolien Hm" sort="Van Deurzen, Carolien Hm" uniqKey="Van Deurzen C" first="Carolien Hm" last="Van Deurzen">Carolien Hm Van Deurzen</name><affiliation><nlm:aff id="Aff125"><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Pathology, Family Cancer Clinic,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="Aff126"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Medical Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Olah, Edith" sort="Olah, Edith" uniqKey="Olah E" first="Edith" last="Olah">Edith Olah</name><affiliation><nlm:aff id="Aff128"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0667 8064</institution-id><institution-id institution-id-type="GRID">grid.419617.c</institution-id><institution></institution><institution>Department of Molecular Genetics, National Institute of Oncology,</institution></institution-wrap>Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="Aff129"><institution-wrap><institution-id institution-id-type="GRID">grid.7080.f</institution-id><institution>Oncogenetics Group, University Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR),</institution><institution>Universitat Autònoma de Barcelona,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:aff id="Aff130"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="Aff131"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="Aff131"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menendez">Mireia Menendez</name><affiliation><nlm:aff id="Aff130"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Cybulski, Cezary" sort="Cybulski, Cezary" uniqKey="Cybulski C" first="Cezary" last="Cybulski">Cezary Cybulski</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Durda, Katarzyna" sort="Durda, Katarzyna" uniqKey="Durda K" first="Katarzyna" last="Durda">Katarzyna Durda</name><affiliation><nlm:aff id="Aff132"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name><affiliation><nlm:aff id="Aff133"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0640 0021</institution-id><institution-id institution-id-type="GRID">grid.14013.37</institution-id><institution>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine,</institution><institution>University of Iceland,</institution></institution-wrap>Reykjavik, Iceland</nlm:aff></affiliation></author><author><name sortKey="Maugard, Christine" sort="Maugard, Christine" uniqKey="Maugard C" first="Christine" last="Maugard">Christine Maugard</name><affiliation><nlm:aff id="Aff134"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoire de diagnostic génétique et Service d’Onco-hématologie,</institution><institution>Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="Aff135"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9471 1794</institution-id><institution-id institution-id-type="GRID">grid.411081.d</institution-id><institution></institution><institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University,</institution></institution-wrap>Quebec City, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="Aff136"><institution-wrap><institution-id institution-id-type="GRID">grid.414603.4</institution-id><institution></institution><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS,</institution></institution-wrap>Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="Aff136"><institution-wrap><institution-id institution-id-type="GRID">grid.414603.4</institution-id><institution></institution><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS,</institution></institution-wrap>Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Teixeira, Manuel R" sort="Teixeira, Manuel R" uniqKey="Teixeira M" first="Manuel R" last="Teixeira">Manuel R. Teixeira</name><affiliation><nlm:aff id="Aff137"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0631 0608</institution-id><institution-id institution-id-type="GRID">grid.418711.a</institution-id><institution>Department of Genetics,</institution><institution>Portuguese Oncology Institute,</institution></institution-wrap>Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="Aff139"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8875 6339</institution-id><institution-id institution-id-type="GRID">grid.417468.8</institution-id><institution></institution><institution>Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Scottsdale, AZ USA</nlm:aff></affiliation></author><author><name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S" last="Pankratz">Vernon S. Pankratz</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="Aff140"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I" last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="Aff141"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2233 9230</institution-id><institution-id institution-id-type="GRID">grid.280128.1</institution-id><institution></institution><institution>National Human Genome Research Institute, National Institutes of Health,</institution></institution-wrap>Bethesda, MD USA</nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Jacobs, Lauren" sort="Jacobs, Lauren" uniqKey="Jacobs L" first="Lauren" last="Jacobs">Lauren Jacobs</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Corines, Marina" sort="Corines, Marina" uniqKey="Corines M" first="Marina" last="Corines">Marina Corines</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Lincoln, Anne" sort="Lincoln, Anne" uniqKey="Lincoln A" first="Anne" last="Lincoln">Anne Lincoln</name><affiliation><nlm:aff id="Aff142"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Berger, Andreas" sort="Berger, Andreas" uniqKey="Berger A" first="Andreas" last="Berger">Andreas Berger</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Fink Retter, Anneliese" sort="Fink Retter, Anneliese" uniqKey="Fink Retter A" first="Anneliese" last="Fink-Retter">Anneliese Fink-Retter</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F" last="Singer">Christian F. Singer</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Kaulich, Daphne Gschwantler" sort="Kaulich, Daphne Gschwantler" uniqKey="Kaulich D" first="Daphne Gschwantler" last="Kaulich">Daphne Gschwantler Kaulich</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Pfeiler, Georg" sort="Pfeiler, Georg" uniqKey="Pfeiler G" first="Georg" last="Pfeiler">Georg Pfeiler</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Tea, Muy Kheng" sort="Tea, Muy Kheng" uniqKey="Tea M" first="Muy-Kheng" last="Tea">Muy-Kheng Tea</name><affiliation><nlm:aff id="Aff143"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M" last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="Aff144"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9891 5233</institution-id><institution-id institution-id-type="GRID">grid.468198.a</institution-id><institution></institution><institution>Department of Cancer Epidemiology, Moffitt Cancer Center,</institution></institution-wrap>Tampa, FL USA</nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L" last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="Aff145"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8075</institution-id><institution-id institution-id-type="GRID">grid.48336.3a</institution-id><institution></institution><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health,</institution></institution-wrap>Rockville, MD USA</nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H" last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="Aff145"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8075</institution-id><institution-id institution-id-type="GRID">grid.48336.3a</institution-id><institution></institution><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health,</institution></institution-wrap>Rockville, MD USA</nlm:aff></affiliation></author><author><name sortKey="Rennert, Gad" sort="Rennert, Gad" uniqKey="Rennert G" first="Gad" last="Rennert">Gad Rennert</name><affiliation><nlm:aff id="Aff146"><institution-wrap><institution-id institution-id-type="ISNI">0000000121102151</institution-id><institution-id institution-id-type="GRID">grid.6451.6</institution-id><institution></institution><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine,</institution></institution-wrap>Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Imyanitov, Evgeny N" sort="Imyanitov, Evgeny N" uniqKey="Imyanitov E" first="Evgeny N" last="Imyanitov">Evgeny N. Imyanitov</name><affiliation><nlm:aff id="Aff147"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9341 0551</institution-id><institution-id institution-id-type="GRID">grid.465337.0</institution-id><institution></institution><institution>NN Petrov Institute of Oncology,</institution></institution-wrap>St Petersburg, Russia</nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="Aff148"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0473 9881</institution-id><institution-id institution-id-type="GRID">grid.416166.2</institution-id><institution>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute,</institution><institution>Mount Sinai Hospital, Cancer Care Ontario,</institution></institution-wrap>Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="Aff149"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center,</institution><institution>The Ohio State University,</institution></institution-wrap>Columbus, OH USA</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="Aff150"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 5814</institution-id><institution-id institution-id-type="GRID">grid.417271.6</institution-id><institution>Department of Clinical Genetics,</institution><institution>Vejle Hospital,</institution></institution-wrap>Vejle, Denmark</nlm:aff></affiliation></author><author><name sortKey="Pedersen, Inge Sokilde" sort="Pedersen, Inge Sokilde" uniqKey="Pedersen I" first="Inge Sokilde" last="Pedersen">Inge Sokilde Pedersen</name><affiliation><nlm:aff id="Aff151"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7349</institution-id><institution-id institution-id-type="GRID">grid.27530.33</institution-id><institution>Section of Molecular Diagnostics, Department of Biochemistry,</institution><institution>Aalborg University Hospital,</institution></institution-wrap>Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation><nlm:aff id="Aff152"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 597X</institution-id><institution-id institution-id-type="GRID">grid.154185.c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Aarhus University Hospital,</institution></institution-wrap>Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria A" sort="Caligo, Maria A" uniqKey="Caligo M" first="Maria A" last="Caligo">Maria A. Caligo</name><affiliation><nlm:aff id="Aff153"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 8209</institution-id><institution-id institution-id-type="GRID">grid.144189.1</institution-id><institution>Section of Genetic Oncology, Department of Laboratory Medicine,</institution><institution>University and University Hospital of Pisa,</institution></institution-wrap>Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Berger, Raanan" sort="Berger, Raanan" uniqKey="Berger R" first="Raanan" last="Berger">Raanan Berger</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Laitman, Yael" sort="Laitman, Yael" uniqKey="Laitman Y" first="Yael" last="Laitman">Yael Laitman</name><affiliation><nlm:aff id="Aff154"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="Aff155"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="Aff156"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Oncology,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="Aff157"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Oncology,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Borg, Ake" sort="Borg, Ake" uniqKey="Borg A" first="Ake" last="Borg">Ake Borg</name><affiliation><nlm:aff id="Aff158"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Oncology,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="Aff161"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8736 9513</institution-id><institution-id institution-id-type="GRID">grid.412578.d</institution-id><institution>Center for Clinical Cancer Genetics and Global Health,</institution><institution>University of Chicago Medical Center,</institution></institution-wrap>Chicago, IL USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff162"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I" last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="Aff163">5841 South Maryland Avenue, Chicago, MC, 2115 IL USA</nlm:aff></affiliation></author><author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name><affiliation><nlm:aff id="Aff135"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9471 1794</institution-id><institution-id institution-id-type="GRID">grid.411081.d</institution-id><institution></institution><institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University,</institution></institution-wrap>Quebec City, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute,</institution></institution-wrap>Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</nlm:aff></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C" last="Antoniou">Antonis C. Antoniou</name><affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000000121885934</institution-id><institution-id institution-id-type="GRID">grid.5335.0</institution-id><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care,</institution><institution>University of Cambridge,</institution></institution-wrap>Cambridge, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Breast Cancer Research : BCR</title><idno type="ISSN">1465-5411</idno><idno type="eISSN">1465-542X</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Introduction</title><p>More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers.</p></sec><sec><title>Methods</title><p>We used data from 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.</p></sec><sec><title>Results</title><p>The estimated BC hazard ratios (HRs) for the 74 known BC alleles in <italic>BRCA1</italic> carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in <italic>BRCA1</italic> carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at <italic>P</italic> <10<sup>−6</sup> in the analyses by PR status, HER2 status, TN phenotype, morphologic subtypes, histological grade and nodal involvement.</p></sec><sec><title>Conclusions</title><p>Differences in associations of common BC susceptibility alleles between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. 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rid="Aff128">128</xref></contrib><contrib contrib-type="author"><name><surname>Diez</surname><given-names>Orland</given-names></name><address><email>odiez@vhebron.net</email></address><xref ref-type="aff" rid="Aff129">129</xref></contrib><contrib contrib-type="author"><name><surname>Lazaro</surname><given-names>Conxi</given-names></name><address><email>clazaro@iconcologia.net</email></address><xref ref-type="aff" rid="Aff130">130</xref></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name><address><email>iblanco@iconcologia.net</email></address><xref ref-type="aff" rid="Aff131">131</xref></contrib><contrib contrib-type="author"><name><surname>Teulé</surname><given-names>Alex</given-names></name><address><email>ateule@iconcologia.net</email></address><xref ref-type="aff" rid="Aff131">131</xref></contrib><contrib 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contrib-type="author"><name><surname>Olswold</surname><given-names>Curtis</given-names></name><address><email>olswold.curtis@mayo.edu</email></address><xref ref-type="aff" rid="Aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>Lindor</surname><given-names>Noralane</given-names></name><address><email>lindor.noralane@mayo.edu</email></address><xref ref-type="aff" rid="Aff139">139</xref></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>Vernon S</given-names></name><address><email>pankratz.vernon@mayo.edu</email></address><xref ref-type="aff" rid="Aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>Hallberg</surname><given-names>Emily</given-names></name><address><email>hallberg.emily@mayo.edu</email></address><xref ref-type="aff" rid="Aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><address><email>wang.xianshu@mayo.edu</email></address><xref ref-type="aff" rid="Aff140">140</xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla I</given-names></name><address><email>szaboc@mail.nih.gov</email></address><xref ref-type="aff" rid="Aff141">141</xref></contrib><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</given-names></name><address><email>josephv@mskcc.org</email></address><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Jacobs</surname><given-names>Lauren</given-names></name><address><email>jacobsl@mskcc.org</email></address><xref ref-type="aff" rid="Aff142">142</xref></contrib><contrib contrib-type="author"><name><surname>Corines</surname><given-names>Marina</given-names></name><address><email>corinesm@mskcc.org</email></address><xref ref-type="aff" rid="Aff142">142</xref></contrib><contrib contrib-type="author"><name><surname>Lincoln</surname><given-names>Anne</given-names></name><address><email>lincolna@mskcc.org</email></address><xref ref-type="aff" rid="Aff142">142</xref></contrib><contrib contrib-type="author"><name><surname>Berger</surname><given-names>Andreas</given-names></name><address><email>andreas.berger@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Fink-Retter</surname><given-names>Anneliese</given-names></name><address><email>anneliese.fink-retter@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F</given-names></name><address><email>christian.singer@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Rappaport</surname><given-names>Christine</given-names></name><address><email>christine.rappaport@akhwien.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Kaulich</surname><given-names>Daphne Gschwantler</given-names></name><address><email>daphne.gschwantler-kaulich@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Pfeiler</surname><given-names>Georg</given-names></name><address><email>georg.pfeiler@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><address><email>muy-kheng.tea@meduniwien.ac.at</email></address><xref ref-type="aff" rid="Aff143">143</xref></contrib><contrib contrib-type="author"><name><surname>Phelan</surname><given-names>Catherine 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contrib-type="author"><name><surname>Glendon</surname><given-names>Gord</given-names></name><address><email>gord.glendon@cancercare.on.ca</email></address><xref ref-type="aff" rid="Aff148">148</xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda Ewart</given-names></name><address><email>amanda.toland@osumc.edu</email></address><xref ref-type="aff" rid="Aff149">149</xref></contrib><contrib contrib-type="author"><name><surname>Bojesen</surname><given-names>Anders</given-names></name><address><email>anders.bojesen@slb.regionsyddanmark.dk</email></address><xref ref-type="aff" rid="Aff150">150</xref></contrib><contrib contrib-type="author"><name><surname>Pedersen</surname><given-names>Inge Sokilde</given-names></name><address><email>isp@rn.dk</email></address><xref ref-type="aff" rid="Aff151">151</xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Uffe 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rid="Aff154">154</xref></contrib><contrib contrib-type="author"><name><surname>Rantala</surname><given-names>Johanna</given-names></name><address><email>johanna.rantala@karolinska.se</email></address><xref ref-type="aff" rid="Aff155">155</xref></contrib><contrib contrib-type="author"><name><surname>Arver</surname><given-names>Brita</given-names></name><address><email>brita.wasteson-arver@karolinska.se</email></address><xref ref-type="aff" rid="Aff156">156</xref></contrib><contrib contrib-type="author"><name><surname>Loman</surname><given-names>Niklas</given-names></name><address><email>niklas.loman@med.lu.se</email></address><xref ref-type="aff" rid="Aff157">157</xref></contrib><contrib contrib-type="author"><name><surname>Borg</surname><given-names>Ake</given-names></name><address><email>ake.borg@med.lu.se</email></address><xref ref-type="aff" rid="Aff158">158</xref></contrib><contrib 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088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Pathology, Genetic Epidemiology Laboratory,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, Australia</aff><aff id="Aff18"><label>18</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0807 2568</institution-id><institution-id institution-id-type="GRID">grid.417893.0</institution-id><institution></institution><institution>Department of Preventive and Predictive Medicine, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumori (INT),</institution></institution-wrap>Milan, Italy</aff><aff id="Aff19"><label>19</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2156 6853</institution-id><institution-id institution-id-type="GRID">grid.42505.36</institution-id><institution>Department of Preventive Medicine, Keck School of Medicine,</institution><institution>University of Southern California,</institution></institution-wrap>Los Angeles, CA USA</aff><aff id="Aff20"><label>20</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</aff><aff id="Aff21"><label>21</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2294 1395</institution-id><institution-id institution-id-type="GRID">grid.1049.c</institution-id><institution></institution><institution>Department of Genetics & Computational Biology, Queensland Institute of Medical Research, Herston,</institution></institution-wrap>Australia</aff><aff id="Aff22"><label>22</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2297 6811</institution-id><institution-id institution-id-type="GRID">grid.266102.1</institution-id><institution>Department of Medicine and Institute for Human Genetics,</institution><institution>University of California,</institution></institution-wrap>San Francisco, CA USA</aff><aff id="Aff23"><label>23</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8972</institution-id><institution-id institution-id-type="GRID">grid.25879.31</institution-id><institution>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine,</institution><institution>University of Pennsylvania,</institution></institution-wrap>Philadelphia, PA USA</aff><aff id="Aff24"><label>24</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2291 4776</institution-id><institution-id 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institution-id-type="ISNI">0000 0001 2152 9905</institution-id><institution-id institution-id-type="GRID">grid.50956.3f</institution-id><institution></institution><institution>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center,</institution></institution-wrap>Los Angeles, CA USA</aff><aff id="Aff28"><label>28</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0498 8300</institution-id><institution-id institution-id-type="GRID">grid.280669.3</institution-id><institution></institution><institution>Department of Epidemiology, Cancer Prevention Institute of California,</institution></institution-wrap>Fremont, CA USA</aff><aff id="Aff29"><label>29</label><institution-wrap><institution-id institution-id-type="ISNI">0000000419368729</institution-id><institution-id institution-id-type="GRID">grid.21729.3f</institution-id><institution>Department of Epidemiology,</institution><institution>Columbia University,</institution></institution-wrap>New York, NY USA</aff><aff id="Aff30"><label>30</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0456 6466</institution-id><institution-id institution-id-type="GRID">grid.412530.1</institution-id><institution></institution><institution>Fox Chase Cancer Center,</institution></institution-wrap>Philadelphia, PA USA</aff><aff id="Aff31"><label>31</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of Dermatology,</institution><institution>University of Utah School of Medicine,</institution></institution-wrap>Salt Lake City, UT USA</aff><aff id="Aff32"><label>32</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2193 0096</institution-id><institution-id institution-id-type="GRID">grid.223827.e</institution-id><institution>Department of 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id="Aff41"><label>41</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</aff><aff id="Aff42"><label>42</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</aff><aff id="Aff43"><label>43</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8700 1153</institution-id><institution-id institution-id-type="GRID">grid.7719.8</institution-id><institution></institution><institution>Human Genetics Group, Spanish National Cancer Centre 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institution-id-type="ISNI">0000 0004 0421 8357</institution-id><institution-id institution-id-type="GRID">grid.410425.6</institution-id><institution></institution><institution>Clinical Cancer Genetics, City of Hope (for the City of Hope Clinical Cancer Genetics Community Research Network),</institution></institution-wrap>Duarte, CA USA</aff><aff id="Aff47"><label>47</label>Covenant Health Joe Arrington Cancer Research Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</aff><aff id="Aff48"><label>48</label>Kootenai Cancer Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA</aff><aff id="Aff49"><label>49</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 7797</institution-id><institution-id institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia 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institution-id-type="GRID">grid.7678.e</institution-id><institution></institution><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory,</institution></institution-wrap>Milan, Italy</aff><aff id="Aff53"><label>53</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 9741</institution-id><institution-id institution-id-type="GRID">grid.418321.d</institution-id><institution></institution><institution>Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico, IRCCS,</institution></institution-wrap>Aviano, PN Italy</aff><aff id="Aff54"><label>54</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 7871</institution-id><institution-id institution-id-type="GRID">grid.410345.7</institution-id><institution></institution><institution>Unit of Hereditary Cancer, IRCCS AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro,</institution></institution-wrap>Genoa, Italy</aff><aff id="Aff55"><label>55</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1757 2304</institution-id><institution-id institution-id-type="GRID">grid.8404.8</institution-id><institution>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences,</institution><institution>University of Florence,</institution></institution-wrap>Florence, Italy</aff><aff id="Aff56"><label>56</label><institution-wrap><institution-id institution-id-type="GRID">grid.412972.b</institution-id><institution></institution><institution>Ospedale di Circolo e Fondazione Macchi Polo Universitario,</institution></institution-wrap>Varese, Italy</aff><aff id="Aff57"><label>57</label><institution-wrap><institution-id institution-id-type="GRID">grid.7841.a</institution-id><institution>Department of Molecular Medicine,</institution><institution>University La Sapienza,</institution></institution-wrap>Rome, Italy</aff><aff id="Aff58"><label>58</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0635 6999</institution-id><institution-id institution-id-type="GRID">grid.6083.d</institution-id><institution></institution><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Aghia Paraskevi Attikis,</institution></institution-wrap>Athens, Greece</aff><aff id="Aff59"><label>59</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 9910</institution-id><institution-id institution-id-type="GRID">grid.65499.37</institution-id><institution></institution><institution>Dana-Farber Cancer Institute,</institution></institution-wrap>Boston, MA USA</aff><aff id="Aff60"><label>60</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0492 0584</institution-id><institution-id institution-id-type="GRID">grid.7497.d</institution-id><institution></institution><institution>Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ),</institution></institution-wrap>Heidelberg, Germany</aff><aff id="Aff61"><label>61</label><institution-wrap><institution-id institution-id-type="GRID">grid.416544.6</institution-id><institution>Clinical Genetics Department,</institution><institution>St Michael’s Hospital,</institution></institution-wrap>Bristol, UK</aff><aff id="Aff62"><label>62</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8527 9995</institution-id><institution-id institution-id-type="GRID">grid.416118.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Royal Devon and Exeter Hospital,</institution></institution-wrap>Exeter, UK</aff><aff id="Aff63"><label>63</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0421 1251</institution-id><institution-id institution-id-type="GRID">grid.419317.9</institution-id><institution></institution><institution>Cheshire and Merseyside Clinical Genetics Service, Liverpool Women’s NHS Foundation Trust,</institution></institution-wrap>Liverpool, UK</aff><aff id="Aff64"><label>64</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0430 9101</institution-id><institution-id institution-id-type="GRID">grid.411037.0</institution-id><institution></institution><institution>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust,</institution></institution-wrap>Manchester, UK</aff><aff id="Aff65"><label>65</label><institution-wrap><institution-id institution-id-type="GRID">grid.430506.4</institution-id><institution></institution><institution>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust,</institution></institution-wrap>Southampton, UK</aff><aff id="Aff66"><label>66</label>Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK</aff><aff id="Aff67"><label>67</label>North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, UK</aff><aff id="Aff68"><label>68</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 6082</institution-id><institution-id institution-id-type="GRID">grid.413991.7</institution-id><institution>Sheffield Clinical Genetics Service,</institution><institution>Sheffield Children’s Hospital,</institution></institution-wrap>Sheffield, UK</aff><aff id="Aff69"><label>69</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0622 5016</institution-id><institution-id institution-id-type="GRID">grid.120073.7</institution-id><institution>Department of Clinical Genetics, East Anglian Regional Genetics Service,</institution><institution>Addenbrookes Hospital,</institution></institution-wrap>Cambridge, UK</aff><aff id="Aff70"><label>70</label>Yorkshire Regional Genetics Service, Leeds, UK</aff><aff id="Aff71"><label>71</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0435 9078</institution-id><institution-id institution-id-type="GRID">grid.269014.8</institution-id><institution>Leicestershire Clinical Genetics Service,</institution><institution>University Hospitals of Leicester NHS Trust,</institution></institution-wrap>Leicester, UK</aff><aff id="Aff72"><label>72</label>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham UK</aff><aff id="Aff73"><label>73</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0488 9484</institution-id><institution-id institution-id-type="GRID">grid.415719.f</institution-id><institution>Oxford Regional Genetics Service,</institution><institution>Churchill Hospital,</institution></institution-wrap>Oxford, UK</aff><aff id="Aff74"><label>74</label><institution-wrap><institution-id institution-id-type="GRID">grid.420545.2</institution-id><institution></institution><institution>Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust,</institution></institution-wrap>London, UK</aff><aff id="Aff75"><label>75</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0426 7394</institution-id><institution-id institution-id-type="GRID">grid.424537.3</institution-id><institution></institution><institution>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust,</institution></institution-wrap>London, UK</aff><aff id="Aff76"><label>76</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9705</institution-id><institution-id institution-id-type="GRID">grid.8217.c</institution-id><institution>Academic Unit of Clinical and Molecular Oncology,</institution><institution>Trinity College Dublin and St James’s Hospital,</institution></institution-wrap>Dublin, Ireland</aff><aff id="Aff77"><label>77</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0169 7725</institution-id><institution-id institution-id-type="GRID">grid.241103.5</institution-id><institution>All Wales Medical Genetics Services,</institution><institution>University Hospital of Wales,</institution></institution-wrap>Cardiff, UK</aff><aff id="Aff78"><label>78</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0624 9907</institution-id><institution-id institution-id-type="GRID">grid.417068.c</institution-id><institution>South East of Scotland Regional Genetics Service,</institution><institution>Western General Hospital,</institution></institution-wrap>Edinburgh, UK</aff><aff id="Aff79"><label>79</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0374 7521</institution-id><institution-id institution-id-type="GRID">grid.4777.3</institution-id><institution>Department of Medical Genetics, Belfast Health and Social Care 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2573</institution-id><institution-id institution-id-type="GRID">grid.4464.2</institution-id><institution>Medical Genetics Unit, St George’s,</institution><institution>University of London,</institution></institution-wrap>London, UK</aff><aff id="Aff83"><label>83</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 6375</institution-id><institution-id institution-id-type="GRID">grid.412016.0</institution-id><institution>Department of Pathology and Laboratory Medicine,</institution><institution>University of Kansas Medical Center,</institution></institution-wrap>Kansas City, KS USA</aff><aff id="Aff84"><label>84</label><institution-wrap><institution-id institution-id-type="ISNI">0000000123222966</institution-id><institution-id institution-id-type="GRID">grid.6936.a</institution-id><institution>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar,</institution><institution>Technical University of Munich,</institution></institution-wrap>Munich, Germany</aff><aff id="Aff85"><label>85</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id><institution-id institution-id-type="GRID">grid.5252.0</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Munich,</institution></institution-wrap>Munich, Germany</aff><aff id="Aff86"><label>86</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 2097</institution-id><institution-id institution-id-type="GRID">grid.412468.d</institution-id><institution></institution><institution>University Hospital of Schleswig-Holstein/University Kiel,</institution></institution-wrap>Kiel, Germany</aff><aff id="Aff87"><label>87</label>Institute of Human Genetics, University Hospital of Schleswig-Holstein, University Kiel, Kiel, Germany</aff><aff id="Aff88"><label>88</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2176 9917</institution-id><institution-id institution-id-type="GRID">grid.411327.2</institution-id><institution></institution><institution>University Düsseldorf,</institution></institution-wrap>Dusseldorf, Germany</aff><aff id="Aff89"><label>89</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2190 4373</institution-id><institution-id institution-id-type="GRID">grid.7700.0</institution-id><institution></institution><institution>University Heidelberg,</institution></institution-wrap>Heidelberg, Germany</aff><aff id="Aff90"><label>90</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9529 9877</institution-id><institution-id institution-id-type="GRID">grid.10423.34</institution-id><institution></institution><institution>Hannover Medical School,</institution></institution-wrap>Hannover, Germany</aff><aff id="Aff91"><label>91</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2240 3300</institution-id><institution-id institution-id-type="GRID">grid.10388.32</institution-id><institution></institution><institution>Institute of Human Genetics,</institution></institution-wrap>Münster, Germany</aff><aff id="Aff92"><label>92</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2111 7257</institution-id><institution-id institution-id-type="GRID">grid.4488.0</institution-id><institution></institution><institution>University Dresden,</institution></institution-wrap>Dresden, Germany</aff><aff id="Aff93"><label>93</label>Institute of Medical Genetics and Human Genetics, Charité, Berlin Germany</aff><aff id="Aff94"><label>94</label><institution-wrap><institution-id institution-id-type="GRID">grid.410712.1</institution-id><institution>Department of Gynaecology and Obstetrics,</institution><institution>University Hospital Ulm,</institution></institution-wrap>Ulm, Germany</aff><aff id="Aff95"><label>95</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1958 8658</institution-id><institution-id institution-id-type="GRID">grid.8379.5</institution-id><institution>Institute of Human Genetics,</institution><institution>University Wurzburg,</institution></institution-wrap>Wurzburg, Germany</aff><aff id="Aff96"><label>96</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Department of Tumour Biology, Institut Curie,</institution></institution-wrap>Paris, France</aff><aff id="Aff97"><label>97</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0639 6384</institution-id><institution-id institution-id-type="GRID">grid.418596.7</institution-id><institution></institution><institution>Institut Curie, INSERM U830,</institution></institution-wrap>Paris, France</aff><aff id="Aff98"><label>98</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution></institution><institution>Université Paris Descartes,</institution></institution-wrap>Sorbonne Paris Cité, Paris France</aff><aff id="Aff99"><label>99</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0099 404X</institution-id><institution-id institution-id-type="GRID">grid.418205.a</institution-id><institution>Laboratoire d’Oncogénétique,</institution><institution>Hôpital René Huguenin, Institut Curie,</institution></institution-wrap>Saint-Cloud, France</aff><aff id="Aff100"><label>100</label>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de St Etienne, St Etienne, France</aff><aff id="Aff101"><label>101</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2172 4233</institution-id><institution-id institution-id-type="GRID">grid.25697.3f</institution-id><institution>INSERM U1052, CNRS UMR5286,</institution><institution>Université Lyon, Centre de Recherche en Cancérologie de Lyon,</institution></institution-wrap>Lyon, France</aff><aff id="Aff102"><label>102</label>GEMO Study: National Cancer Genetics Network, UNICANCER Genetic Group, Paris, France</aff><aff id="Aff103"><label>103</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Centre de Génétique, CHU Dijon,</institution><institution>Université de Bourgogne,</institution></institution-wrap>Dijon, France</aff><aff id="Aff104"><label>104</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 1257</institution-id><institution-id institution-id-type="GRID">grid.418037.9</institution-id><institution></institution><institution>Centre Georges François Leclerc,</institution></institution-wrap>Dijon, France</aff><aff id="Aff105"><label>105</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2106 639X</institution-id><institution-id institution-id-type="GRID">grid.412041.2</institution-id><institution>Cancer Genetics Unit, INSERM U916, Institut Bergonié,</institution><institution>Université de Bordeaux,</institution></institution-wrap>Bordeaux, France</aff><aff id="Aff106"><label>106</label>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France</aff><aff id="Aff107"><label>107</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 7757</institution-id><institution-id institution-id-type="GRID">grid.7849.2</institution-id><institution></institution><institution>Université Lyon 1, CNRS UMR5558,</institution></institution-wrap>Lyon, France</aff><aff id="Aff108"><label>108</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0200 3174</institution-id><institution-id institution-id-type="GRID">grid.418116.b</institution-id><institution></institution><institution>Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard,</institution></institution-wrap>Lyon, France</aff><aff id="Aff109"><label>109</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1955 1644</institution-id><institution-id institution-id-type="GRID">grid.213910.8</institution-id><institution>Lombardi Comprehensive Cancer Center,</institution><institution>Georgetown University,</institution></institution-wrap>Washington, DC USA</aff><aff id="Aff110"><label>110</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2069 7798</institution-id><institution-id institution-id-type="GRID">grid.5342.0</institution-id><institution>Center for Medical Genetics,</institution><institution>Ghent University,</institution></institution-wrap>Ghent, Belgium</aff><aff id="Aff111"><label>111</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2181 8635</institution-id><institution-id institution-id-type="GRID">grid.240614.5</institution-id><institution></institution><institution>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute,</institution></institution-wrap>Buffalo, NY USA</aff><aff id="Aff112"><label>112</label><institution-wrap><institution-id institution-id-type="GRID">grid.415193.b</institution-id><institution>ANZGOG Australia, New Zealand Gynaecological Oncology Group,</institution><institution>Prince of Wales Hospital,</institution></institution-wrap>Randwick, Australia</aff><aff id="Aff113"><label>113</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution></institution><institution>The Ohio State University, Columbus Cancer Council,</institution></institution-wrap>Columbus, OH USA</aff><aff id="Aff114"><label>114</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0400 4439</institution-id><institution-id institution-id-type="GRID">grid.240372.0</institution-id><institution>Division of Gynecologic Oncology,</institution><institution>NorthShore University HealthSystem,</institution></institution-wrap>Evanston, IL USA</aff><aff id="Aff115"><label>115</label><institution-wrap><institution-id institution-id-type="GRID">grid.414780.e</institution-id><institution></institution><institution>Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clinico San Carlos (IdISSC),</institution></institution-wrap>Madrid, Spain</aff><aff id="Aff116"><label>116</label><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>Family Cancer Clinic, Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, the Netherlands</aff><aff id="Aff117"><label>117</label><institution-wrap><institution-id institution-id-type="ISNI">0000000404654431</institution-id><institution-id institution-id-type="GRID">grid.5650.6</institution-id><institution></institution><institution>Department of Clinical Genetics, Academic Medical Center,</institution></institution-wrap>Amsterdam, The Netherlands</aff><aff id="Aff118"><label>118</label><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution>Department of Epidemiology,</institution><institution>Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, The Netherlands</aff><aff id="Aff119"><label>119</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0435 165X</institution-id><institution-id institution-id-type="GRID">grid.16872.3a</institution-id><institution></institution><institution>Department of Clinical Genetics, VU University Medical Centre,</institution></institution-wrap>Amsterdam, The Netherlands</aff><aff id="Aff120"><label>120</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0407 1981</institution-id><institution-id institution-id-type="GRID">grid.4830.f</institution-id><institution>Department of Genetics, University Medical Center,</institution><institution>Groningen University,</institution></institution-wrap>Groningen, The Netherlands</aff><aff id="Aff121"><label>121</label><institution-wrap><institution-id institution-id-type="ISNI">0000000089452978</institution-id><institution-id institution-id-type="GRID">grid.10419.3d</institution-id><institution>Department of Human Genetics and Department of Clinical Genetics,</institution><institution>Leiden University Medical Center,</institution></institution-wrap>Leiden, The Netherlands</aff><aff id="Aff122"><label>122</label><institution-wrap><institution-id institution-id-type="GRID">grid.412966.e</institution-id><institution>Department of Clinical Genetics,</institution><institution>Maastricht University Medical Center,</institution></institution-wrap>Maastricht, The Netherlands</aff><aff id="Aff123"><label>123</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0444 9382</institution-id><institution-id institution-id-type="GRID">grid.10417.33</institution-id><institution>Department of Human Genetics,</institution><institution>Radboud University Nijmegen Medical Centre,</institution></institution-wrap>Nijmegen, The Netherlands</aff><aff id="Aff124"><label>124</label><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Clinical Genetics,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</aff><aff id="Aff125"><label>125</label><institution-wrap><institution-id institution-id-type="ISNI">000000040459992X</institution-id><institution-id institution-id-type="GRID">grid.5645.2</institution-id><institution>Department of Pathology, Family Cancer Clinic,</institution><institution>Erasmus University Medical Center,</institution></institution-wrap>Rotterdam, The Netherlands</aff><aff id="Aff126"><label>126</label><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Medical Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, The Netherlands</aff><aff id="Aff127"><label>127</label><institution-wrap><institution-id institution-id-type="GRID">grid.430814.a</institution-id><institution></institution><institution>The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), coordinating center: Netherlands Cancer Institute,</institution></institution-wrap>Amsterdam, The Netherlands</aff><aff id="Aff128"><label>128</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0667 8064</institution-id><institution-id institution-id-type="GRID">grid.419617.c</institution-id><institution></institution><institution>Department of Molecular Genetics, National Institute of Oncology,</institution></institution-wrap>Budapest, Hungary</aff><aff id="Aff129"><label>129</label><institution-wrap><institution-id institution-id-type="GRID">grid.7080.f</institution-id><institution>Oncogenetics Group, University Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR),</institution><institution>Universitat Autònoma de Barcelona,</institution></institution-wrap>Barcelona, Spain</aff><aff id="Aff130"><label>130</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</aff><aff id="Aff131"><label>131</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2097 8389</institution-id><institution-id institution-id-type="GRID">grid.418701.b</institution-id><institution></institution><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology,</institution></institution-wrap>Barcelona, Spain</aff><aff id="Aff132"><label>132</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1411 4349</institution-id><institution-id institution-id-type="GRID">grid.107950.a</institution-id><institution>Department of Genetics and Pathology,</institution><institution>Pomeranian Medical University,</institution></institution-wrap>Szczecin, Poland</aff><aff id="Aff133"><label>133</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0640 0021</institution-id><institution-id institution-id-type="GRID">grid.14013.37</institution-id><institution>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine,</institution><institution>University of Iceland,</institution></institution-wrap>Reykjavik, Iceland</aff><aff id="Aff134"><label>134</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoire de diagnostic génétique et Service d’Onco-hématologie,</institution><institution>Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil,</institution></institution-wrap>Strasbourg, France</aff><aff id="Aff135"><label>135</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9471 1794</institution-id><institution-id institution-id-type="GRID">grid.411081.d</institution-id><institution></institution><institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University,</institution></institution-wrap>Quebec City, QC Canada</aff><aff id="Aff136"><label>136</label><institution-wrap><institution-id institution-id-type="GRID">grid.414603.4</institution-id><institution></institution><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS,</institution></institution-wrap>Padua, Italy</aff><aff id="Aff137"><label>137</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0631 0608</institution-id><institution-id institution-id-type="GRID">grid.418711.a</institution-id><institution>Department of Genetics,</institution><institution>Portuguese Oncology Institute,</institution></institution-wrap>Porto, Portugal</aff><aff id="Aff138"><label>138</label><institution-wrap><institution-id institution-id-type="ISNI">0000000403978434</institution-id><institution-id institution-id-type="GRID">grid.1055.1</institution-id><institution></institution><institution>kConFab: Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center,</institution></institution-wrap>Melbourne, Australia</aff><aff id="Aff139"><label>139</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8875 6339</institution-id><institution-id institution-id-type="GRID">grid.417468.8</institution-id><institution></institution><institution>Health Sciences Research, Mayo Clinic,</institution></institution-wrap>Scottsdale, AZ USA</aff><aff id="Aff140"><label>140</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0459 167X</institution-id><institution-id institution-id-type="GRID">grid.66875.3a</institution-id><institution></institution><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic,</institution></institution-wrap>Rochester, MN USA</aff><aff id="Aff141"><label>141</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2233 9230</institution-id><institution-id institution-id-type="GRID">grid.280128.1</institution-id><institution></institution><institution>National Human Genome Research Institute, National Institutes of Health,</institution></institution-wrap>Bethesda, MD USA</aff><aff id="Aff142"><label>142</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2171 9952</institution-id><institution-id institution-id-type="GRID">grid.51462.34</institution-id><institution></institution><institution>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center,</institution></institution-wrap>New York, NY USA</aff><aff id="Aff143"><label>143</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9259 8492</institution-id><institution-id institution-id-type="GRID">grid.22937.3d</institution-id><institution>Department of Obstetrics and Gynecology and Comprehensive Cancer Center,</institution><institution>, Medical University of Vienna,</institution></institution-wrap>Vienna, Austria</aff><aff id="Aff144"><label>144</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9891 5233</institution-id><institution-id institution-id-type="GRID">grid.468198.a</institution-id><institution></institution><institution>Department of Cancer Epidemiology, Moffitt Cancer Center,</institution></institution-wrap>Tampa, FL USA</aff><aff id="Aff145"><label>145</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 8075</institution-id><institution-id institution-id-type="GRID">grid.48336.3a</institution-id><institution></institution><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health,</institution></institution-wrap>Rockville, MD USA</aff><aff id="Aff146"><label>146</label><institution-wrap><institution-id institution-id-type="ISNI">0000000121102151</institution-id><institution-id institution-id-type="GRID">grid.6451.6</institution-id><institution></institution><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine,</institution></institution-wrap>Haifa, Israel</aff><aff id="Aff147"><label>147</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9341 0551</institution-id><institution-id institution-id-type="GRID">grid.465337.0</institution-id><institution></institution><institution>NN Petrov Institute of Oncology,</institution></institution-wrap>St Petersburg, Russia</aff><aff id="Aff148"><label>148</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0473 9881</institution-id><institution-id institution-id-type="GRID">grid.416166.2</institution-id><institution>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute,</institution><institution>Mount Sinai Hospital, Cancer Care Ontario,</institution></institution-wrap>Toronto, ON Canada</aff><aff id="Aff149"><label>149</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id><institution-id institution-id-type="GRID">grid.261331.4</institution-id><institution>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center,</institution><institution>The Ohio State University,</institution></institution-wrap>Columbus, OH USA</aff><aff id="Aff150"><label>150</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 5814</institution-id><institution-id institution-id-type="GRID">grid.417271.6</institution-id><institution>Department of Clinical Genetics,</institution><institution>Vejle Hospital,</institution></institution-wrap>Vejle, Denmark</aff><aff id="Aff151"><label>151</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0646 7349</institution-id><institution-id institution-id-type="GRID">grid.27530.33</institution-id><institution>Section of Molecular Diagnostics, Department of Biochemistry,</institution><institution>Aalborg University Hospital,</institution></institution-wrap>Aalborg, Denmark</aff><aff id="Aff152"><label>152</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0512 597X</institution-id><institution-id institution-id-type="GRID">grid.154185.c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Aarhus University Hospital,</institution></institution-wrap>Aarhus N, Denmark</aff><aff id="Aff153"><label>153</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1756 8209</institution-id><institution-id institution-id-type="GRID">grid.144189.1</institution-id><institution>Section of Genetic Oncology, Department of Laboratory Medicine,</institution><institution>University and University Hospital of Pisa,</institution></institution-wrap>Pisa, Italy</aff><aff id="Aff154"><label>154</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id><institution-id institution-id-type="GRID">grid.413795.d</institution-id><institution></institution><institution>Sheba Medical Center,</institution></institution-wrap>Tel Aviv, Israel</aff><aff id="Aff155"><label>155</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Clinical Genetics,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</aff><aff id="Aff156"><label>156</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9241 5705</institution-id><institution-id institution-id-type="GRID">grid.24381.3c</institution-id><institution>Department of Oncology,</institution><institution>Karolinska University Hospital,</institution></institution-wrap>Stockholm, Sweden</aff><aff id="Aff157"><label>157</label><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Oncology,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</aff><aff id="Aff158"><label>158</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Oncology,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</aff><aff id="Aff161"><label>161</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8736 9513</institution-id><institution-id institution-id-type="GRID">grid.412578.d</institution-id><institution>Center for Clinical Cancer Genetics and Global Health,</institution><institution>University of Chicago Medical Center,</institution></institution-wrap>Chicago, IL USA</aff><aff id="Aff162"><label>162</label><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>Lund, Sweden</aff><aff id="Aff163"><label>163</label>5841 South Maryland Avenue, Chicago, MC, 2115 IL USA</aff></contrib-group><pub-date pub-type="epub"><day>31</day><month>12</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>31</day><month>12</month><year>2014</year></pub-date><pub-date pub-type="ppub"><year>2014</year></pub-date><volume>16</volume><elocation-id>3416</elocation-id><history><date date-type="received"><day>11</day><month>6</month><year>2014</year></date><date date-type="accepted"><day>2</day><month>12</month><year>2014</year></date></history><permissions><copyright-statement>© Kuchenbaecker et al.; licensee BioMed Central. 2014</copyright-statement><license license-type="open-access"><license-p>This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0">http://creativecommons.org/licenses/by/4.0</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>) applies to the data made available in this article, unless otherwise stated.</license-p></license></permissions><abstract id="Abs1"><sec><title>Introduction</title><p>More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers.</p></sec><sec><title>Methods</title><p>We used data from 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.</p></sec><sec><title>Results</title><p>The estimated BC hazard ratios (HRs) for the 74 known BC alleles in <italic>BRCA1</italic> carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in <italic>BRCA1</italic> carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at <italic>P</italic> <10<sup>−6</sup> in the analyses by PR status, HER2 status, TN phenotype, morphologic subtypes, histological grade and nodal involvement.</p></sec><sec><title>Conclusions</title><p>Differences in associations of common BC susceptibility alleles between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. Estimates of the risks associated with these variants based on population-based studies are likely to be applicable to mutation carriers after taking ER status into account, which has implications for risk prediction.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1186/s13058-014-0492-9) contains supplementary material, which is available to authorized users.</p></sec></abstract><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© The Author(s) 2014</meta-value></custom-meta></custom-meta-group></article-meta></front><body><sec id="Sec1"><title>Introduction</title><p>Women who carry pathogenic mutations in <italic>BRCA1</italic> or <italic>BRCA2</italic> have markedly increased risks of developing breast cancer. The distributions of breast cancer tumor characteristics differ between <italic>BRCA1</italic> mutation carriers, <italic>BRCA2</italic> mutation carriers and those arising in the general population. The majority of breast tumors arising in <italic>BRCA1</italic> carriers show low or absent expression of estrogen receptor (ER) [<xref ref-type="bibr" rid="CR1">1</xref>]-[<xref ref-type="bibr" rid="CR3">3</xref>], whereas the majority of <italic>BRCA2</italic>-associated tumors are ER-positive [<xref ref-type="bibr" rid="CR1">1</xref>],[<xref ref-type="bibr" rid="CR4">4</xref>],[<xref ref-type="bibr" rid="CR5">5</xref>].</p><p>Many common breast cancer susceptibility alleles identified through population-based genome-wide association studies (GWASs) have also been associated with breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers [<xref ref-type="bibr" rid="CR6">6</xref>],[<xref ref-type="bibr" rid="CR7">7</xref>]. Several of these variants are specifically associated with the ER status of the breast cancer in the general population [<xref ref-type="bibr" rid="CR8">8</xref>],[<xref ref-type="bibr" rid="CR9">9</xref>]. Among the single-nucleotide polymorphisms (SNPs) that have been evaluated in mutation carriers so far, the variants found to be associated with breast cancer risk for <italic>BRCA1</italic> carriers largely overlap with loci for which stronger associations with ER-negative breast cancer have been reported in the general population [<xref ref-type="bibr" rid="CR8">8</xref>]-[<xref ref-type="bibr" rid="CR12">12</xref>]. An important question for risk modelling and prevention studies is whether the effects of common variants on breast cancer risk in mutation carriers are mediated through a generic influence on the development of particular hormone receptor subtypes of breast cancer or through epistatic interaction with the <italic>BRCA1/2</italic> mutation itself.</p><p>Previous studies by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) described the impact of 29 breast cancer susceptibility variants from non-hereditary breast cancer studies on ER-positive and ER-negative breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers [<xref ref-type="bibr" rid="CR6">6</xref>],[<xref ref-type="bibr" rid="CR7">7</xref>],[<xref ref-type="bibr" rid="CR13">13</xref>]-[<xref ref-type="bibr" rid="CR15">15</xref>]. These analyses demonstrated that, despite the lack of an association between some susceptibility variants and overall breast cancer risk for <italic>BRCA1</italic> or <italic>BRCA2</italic> carriers, residual associations exist with specific disease subtypes. In addition, the ER-specific associations in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers were mainly in the same direction and of a magnitude similar to the associations observed with breast cancer stratified by ER expression status in the general population. However, these studies were conducted on smaller numbers of mutation carriers than currently available and evaluated only a subset of the currently known breast cancer susceptibility alleles for their associations with ER-specific subtypes in carriers. Recently, 45 additional SNPs have been found to be associated with breast cancer risk in the general population [<xref ref-type="bibr" rid="CR8">8</xref>]-[<xref ref-type="bibr" rid="CR10">10</xref>],[<xref ref-type="bibr" rid="CR16">16</xref>]. Eighteen of these SNPs showed evidence of association with ER-positive breast cancer, but not with ER-negative breast cancer, and four loci (1q32.1 <italic>LGR6</italic>, 2p24.1, 16q12 and 20q11) were associated only with ER-negative breast cancer in the general population. These 45 newly discovered loci have not yet been evaluated for their associations with breast cancer risk for mutation carriers.</p><p>In the present study, we assessed the disease subtype-specific associations of all 74 previously reported breast cancer susceptibility variants in 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> carriers. We evaluated whether differences in associations of known breast cancer susceptibility variants between <italic>BRCA1</italic> carriers, <italic>BRCA2</italic> carriers and the general population are mediated by tumor ER status in mutation carriers. We also analyzed the associations of about 200,000 variants on the iCOGS genotyping array with subtype-specific breast cancer risk in carriers in an attempt to uncover previously unreported subtype-specific associations in women with <italic>BRCA1</italic> and <italic>BRCA2</italic> mutations. In addition to ER and progesterone receptor (PR) status, we report, for the first time to our knowledge, associations by HER2 status and with triple-negative disease (TN, referring to ER-, PR- and human epidermal growth factor receptor 2 (HER2)-negative), and we also describe associations with clinical features such as “ductal, no specified subtype” (hereafter referred to as <italic>ductal</italic>) and lobular morphologic subtypes, nodal status and histological grade.</p></sec><sec id="Sec2"><title>Methods</title><sec id="Sec3"><title>Study subjects</title><p>Data were obtained from 47 studies in 27 different countries in CIMBA [<xref ref-type="bibr" rid="CR17">17</xref>]. Eligible study subjects were women who carry pathogenic mutations in <italic>BRCA1</italic> or <italic>BRCA2</italic>. The majority were recruited through cancer genetics clinics and enrolled into national or regional studies. Written informed consent was obtained from all subjects. Each of the host institutions recruited under ethically approved protocols. A list of the local institutional review boards that provided ethical approval for this study is given in Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S1. Eligibility was restricted to mutation carriers who were 18 years of age or older at recruitment. Data collected included year of birth, age at cancer diagnosis, personal history of bilateral prophylactic mastectomy and/or bilateral salpingo-oophorectomy, mutation description, tumor pathology and ethnicity.</p></sec><sec id="Sec4"><title>Tumor pathology data</title><p>Breast tumor pathology data were gathered from a range of sources, specifically patient pathology reports, pathology review data, tumor registry records and tissue microarray results. These included information on ER, PR and HER2 status; morphologic subtype; lymph node involvement; and histological grade. For ER, PR and HER2, status was classified as negative or positive, with supplementary immunohistochemistry scoring or biochemical data and methodology provided when available. The vast majority of centers employed a cutoff of either ≥10% or ≥1% of tumor nuclei staining positive to define ER and PR positivity. Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S2 lists the subtype definitions used by each study, which were not centrally reclassified, owing to the low proportion of records with supporting staining data. Similarly, HER2 status was determined using immunohistochemistry to detect strong complete membrane staining (with a score of 3+ considered positive) and/or <italic>in situ</italic> hybridization to detect HER2 gene amplification. To ensure consistency across studies, when information on the cells stained was available, we used the same cutoff to define ER-, PR- and HER2-positive tumors. The cutoffs used for the small number of cases where composite scoring methods based on the proportion and intensity of staining were available (Allred score, immunoreactive Remmele score) are given in Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S2. Consistency checks were performed to validate receptor data against supplementary scoring information, if provided. Each cancer was assigned to a morphologic subgroup (ductal, lobular, medullary, other), which we confirmed using the World Health Organization International Classification of Diseases for Oncology (ICD-O) code for the classification of tumor type when sufficient information was provided [<xref ref-type="bibr" rid="CR18">18</xref>]. Lymph node status, along with the number of nodes showing metastatic carcinoma, was provided when available. Histologic grade was assigned as grade 1, 2 or 3 by local pathologists who used a modified Scarff-Bloom-Richardson malignancy grading system.</p></sec><sec id="Sec5"><title>Genotyping and quality control</title><p>Genotyping was carried out using the iCOGS custom array. The array development and details of the genotyping and quality control for the CIMBA samples are described in detail elsewhere [<xref ref-type="bibr" rid="CR6">6</xref>],[<xref ref-type="bibr" rid="CR7">7</xref>]. Briefly, genotyping for <italic>BRCA2</italic> carriers was conducted at McGill University and Génome Québec Innovation Centre (Canada) and for <italic>BRCA1</italic> carriers at the Mayo Clinic (USA). SNPs were excluded if they were located on the Y chromosome, if they were monomorphic, if they deviated significantly from Hardy-Weinberg equilibrium (<italic>P</italic> <10<sup>−7</sup>) or if they had call rates <95%. Samples were excluded if they had a call rate <95%, if they were of non-European ancestry or if they demonstrated extreme heterozygosity. After quality control, we had 200,720 SNPs available for analysis in 15,252 <italic>BRCA1</italic> samples and 200,908 SNPs available for analysis in 8,211 <italic>BRCA2</italic> samples.</p></sec><sec id="Sec6"><title>Statistical methods</title><p>We evaluated the associations of each genotype with risks of developing breast cancer or breast cancer subtypes defined by the tumor characteristics or morphology. The analyses were carried out within a survival analysis framework. Individuals were censored at the first of the following events: breast cancer diagnosis, ovarian cancer diagnosis, bilateral mastectomy or age at last follow-up. In order to account for non-random ascertainment of mutation carriers with respect to their disease phenotype, we used a retrospective likelihood approach that models the probability of observing the genotypes conditional on the disease phenotype [<xref ref-type="bibr" rid="CR19">19</xref>],[<xref ref-type="bibr" rid="CR20">20</xref>]. It was assumed that the cancer incidence depends on the underlying SNP genotype through a Cox proportional hazards model:<disp-formula id="Equ1"><alternatives><mml:math id="M1"><mml:msub><mml:mi mathvariant="italic">λ</mml:mi><mml:mi mathvariant="normal">i</mml:mi></mml:msub><mml:mfenced close=")" open="("><mml:msub><mml:mi>t</mml:mi><mml:mi mathvariant="normal">i</mml:mi></mml:msub></mml:mfenced><mml:mo>=</mml:mo><mml:msub><mml:mi mathvariant="italic">λ</mml:mi><mml:mn>0</mml:mn></mml:msub><mml:mfenced close=")" open="("><mml:msub><mml:mi>t</mml:mi><mml:mi mathvariant="normal">i</mml:mi></mml:msub></mml:mfenced><mml:mo>exp</mml:mo><mml:mfenced close=")" open="("><mml:mrow><mml:mi mathvariant="normal">β</mml:mi><mml:msub><mml:mi>z</mml:mi><mml:mi mathvariant="normal">i</mml:mi></mml:msub></mml:mrow></mml:mfenced><mml:mtext>,</mml:mtext></mml:math><graphic xlink:href="13058_2014_492_Equa_HTML.gif" position="anchor"></graphic></alternatives></disp-formula></p><p>where λ<sub>0</sub>(<italic>t</italic><sub>i</sub>) is the baseline incidence and β is the logarithm of the per-allele hazard ratio (HR, under a multiplicative model). The association with overall breast cancer risk was evaluated by testing the hypothesis that β = 0 [<xref ref-type="bibr" rid="CR20">20</xref>].</p><p>We evaluated the associations with the groups of each subtype class (for example, ER-positive and ER-negative), using an extension of the retrospective likelihood approach to model the simultaneous effect of each SNP on more than one tumor subtype [<xref ref-type="bibr" rid="CR15">15</xref>]. Briefly, this involves modeling the conditional likelihood of the observed SNP genotypes and tumor subtypes, given the disease phenotypes. Within this framework, it is possible to estimate simultaneously the HRs for each tumor subtype and test for heterogeneity in the associations [<xref ref-type="bibr" rid="CR15">15</xref>]. To maximize the available information, genotyped mutation carriers that were missing information on tumor characteristics were included in the analysis, and their disease subtype was assumed to be missing at random. In order to account for non-independence among relatives, a robust variance estimation approach was used [<xref ref-type="bibr" rid="CR20">20</xref>]. Further details of the methods for evaluating the associations with overall breast cancer [<xref ref-type="bibr" rid="CR20">20</xref>] and tumor subtypes have been described elsewhere [<xref ref-type="bibr" rid="CR15">15</xref>]. We carried out association analyses by subtype for the following breast cancer characteristics: ER-positive and ER-negative, PR-positive and PR-negative, HER2-positive and HER2-negative, TN breast cancer (that is, negative for ER, PR and HER2) and non-TN (that is, tumor positive for at least one of the three receptors), ductal morphologic subtype, lobular morphologic subtype, nodal involvement (no involved lymph nodes and at least one involved lymph node) and histological grade (high grade (grade 3) and non-high grade (grades 1 and 2)). Only samples with complete information on ER, PR and HER2 expression were included in the analysis for TN as well as non-TN breast cancer. The SNP associations by tumor morphologic subtype were evaluated by comparing ductal tumors to all others and, in a separate analysis, lobular tumors to all others. We are not reporting association analyses for risk of medullary morphologic subtype, owing to sparse data as well as the difficulties in diagnosing medullary breast tumors reliably [<xref ref-type="bibr" rid="CR21">21</xref>],[<xref ref-type="bibr" rid="CR22">22</xref>]. All analyses were stratified by country of residence. The United States and Canada strata were further subdivided by reported Ashkenazi Jewish ancestry. For subtypes with small groups, strata of geographically close countries were combined to provide sufficiently large groups for estimation. All analyses used calendar year– and cohort-specific cancer incidences for <italic>BRCA1</italic> and <italic>BRCA2</italic>. SNPs with minor allele frequencies <3% were excluded. The retrospective likelihood was modeled using custom-written functions implemented in the pedigree analysis software MENDEL [<xref ref-type="bibr" rid="CR23">23</xref>].</p><p>When evaluating whether the known breast cancer susceptibility loci identified through population based studies also modify breast cancer risk in mutation carriers, a significance threshold of <italic>P</italic> <0.05 was used because of the strong prior evidence of association for these loci with disease risk. For the association analyses of all the approximately 200,000 variants on the iCOGS array with the breast cancer subtypes in mutation carriers, only associations with <italic>P</italic> < 5 × 10<sup>−8</sup> were considered significant. The discussion of findings and the tables were extended to associations at <italic>P</italic> <10<sup>−6</sup>.</p><p>For variants associated with ER-positive or ER-negative breast cancer with <italic>P</italic> <0.01, we evaluated whether the associations may have been affected by a possible survival bias due to inclusion of prevalent breast cancer cases in the analysis. For the sensitivity analysis, the association analysis by ER status was repeated after excluding mutation carriers diagnosed with breast cancer ≥5 years prior to study recruitment.</p><p>We evaluated the consistency between the breast cancer association estimates of previously reported breast cancer susceptibility variants in the general population (using published data) and the association estimates in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers using the intraclass correlation (ICC). We estimated ICC as outlined by Shrout and Fleiss [<xref ref-type="bibr" rid="CR24">24</xref>] based on a one-way random-effects model and tested for agreement in absolute values of log HR. The same approach was used to evaluate the agreement between associations with ER-positive and/or -negative breast cancer in the general population and associations with ER-positive and/or -negative breast cancer in <italic>BRCA1</italic> and in <italic>BRCA2</italic> carriers. Furthermore, we carried out the same comparisons between associations for <italic>BRCA1</italic> and associations for <italic>BRCA2</italic> carriers.</p></sec></sec><sec id="Sec7"><title>Results</title><sec id="Sec8"><title>Subtype patterns</title><p>The analyses included data from 15,252 <italic>BRCA1</italic> carriers and 8,211 <italic>BRCA2</italic> carriers. Among the breast cancer–affected <italic>BRCA1</italic> carriers, we had data on at least one disease characteristic of interest for 4,619 (59%) of the 7,797 affected women (Table <xref rid="Tab1" ref-type="table">1</xref>). Data were available on tumor characteristics for 2,570 (59%) of the 4,330 affected <italic>BRCA2</italic> carriers. Of the individuals with pathology information, 74% of the <italic>BRCA1</italic> carriers and 75% of the <italic>BRCA2</italic> carriers had data on ER status.<table-wrap id="Tab1"><label>Table 1</label><caption><p><bold>Breast tumor characteristics of 7,797 affected</bold><bold><italic>BRCA1</italic></bold><bold>mutation carriers and 4,330 affected</bold><bold><italic>BRCA2</italic></bold><bold>mutation carriers</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th colspan="3"><italic>BRCA1</italic> mutation carriers</th><th colspan="3"><italic>BRCA2</italic> mutation carriers</th></tr><tr><th></th><th>Yes, <italic>n</italic> (%)</th><th>No, <italic>n</italic> (%)</th><th>Unknown status</th><th>Yes, <italic>n</italic> (%)</th><th>No, <italic>n</italic> (%)</th><th>Unknown status</th></tr></thead><tbody><tr><td>Predictive markers</td><td></td><td></td><td></td><td></td><td></td><td></td></tr><tr><td> ER-positive</td><td>819 (24)</td><td>2,639 (76)</td><td>4,339</td><td>1,490 (77)</td><td>434 (23)</td><td>2,406</td></tr><tr><td> PR-positive</td><td>662 (21)</td><td>2,485 (79)</td><td>4,650</td><td>1,099 (65)</td><td>591 (35)</td><td>2,640</td></tr><tr><td> HER2-positive</td><td>182 (9)</td><td>1,816 (91)</td><td>5799</td><td>121 (13)</td><td>847 (87)</td><td>3,362</td></tr><tr><td> Non-TN</td><td>580 (31)</td><td>1,310 (69)</td><td>5907</td><td>760 (85)</td><td>136 (15)</td><td>3,434</td></tr><tr><td>Morphology</td><td></td><td></td><td>3,789</td><td></td><td></td><td>2,087</td></tr><tr><td> Ductal</td><td>3,159 (82)</td><td></td><td></td><td>1,770 (79)</td><td></td><td></td></tr><tr><td> Lobular</td><td>89 (2)</td><td></td><td></td><td>188 (8)</td><td></td><td></td></tr><tr><td> Medullary</td><td>290 (6)</td><td></td><td></td><td>39 (2)</td><td></td><td></td></tr><tr><td> Other</td><td>470 (10)</td><td></td><td></td><td>246 (11)</td><td></td><td></td></tr><tr><td>Grade</td><td></td><td></td><td>4,645</td><td></td><td></td><td>3,840</td></tr><tr><td> Grade 1</td><td>81 (3)</td><td></td><td></td><td>113 (7)</td><td></td><td></td></tr><tr><td> Grade 2</td><td>574 (18)</td><td></td><td></td><td>700 (42)</td><td></td><td></td></tr><tr><td> Grade 3</td><td>2,497 (79)</td><td></td><td></td><td>839 (51)</td><td></td><td></td></tr><tr><td>Nodal involvement</td><td>1,103 (33)</td><td>2,274 (67)</td><td>4,420</td><td>804 (43)</td><td>1,068 (57)</td><td>2,458</td></tr><tr><td>Stage</td><td></td><td></td><td>5,991</td><td></td><td></td><td>3,382</td></tr><tr><td> Stage 0<sup>b</sup></td><td>65 (4)</td><td></td><td></td><td>121 (13)</td><td></td><td></td></tr><tr><td> Stage 1</td><td>825 (46)</td><td></td><td></td><td>327 (35)</td><td></td><td></td></tr><tr><td> Stage 2</td><td>772 (43)</td><td></td><td></td><td>390 (41)</td><td></td><td></td></tr><tr><td> Stage 3</td><td>127 (7)</td><td></td><td></td><td>96 (10)</td><td></td><td></td></tr><tr><td> Stage 4</td><td>17 (1)</td><td></td><td></td><td>14 (1)</td><td></td><td></td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>ER, Estrogen receptor positive; HER2, Human epidermal growth factor receptor 2; PR, Progesterone receptor; TN, Triple-negative. <sup>b</sup>Carcinoma <italic>in situ</italic>.</p></table-wrap-foot></table-wrap></p></sec><sec id="Sec9"><title>Single-nucleotide polymorphism associations</title><p>After quality control, genotype data were available for analysis for 200,720 SNPs for <italic>BRCA1</italic> carriers and for 200,908 SNPs for <italic>BRCA2</italic> carriers. After adjusting for sample size and excluding SNPs chosen for inclusion on the genotyping array based on reported associations in subsets of the current sample, the inflation coefficient λ<sub>1000</sub> values were 1.01 for ER-positive disease in <italic>BRCA1</italic> carriers, 1.02 for ER-negative in <italic>BRCA1</italic>, 1.01 for ER-positive in <italic>BRCA2</italic> and 1.02 for ER-negative in <italic>BRCA2</italic> carriers (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figure S1 and Figure S2). Similar patterns were observed for other tumor characteristics (results not shown). After excluding variants located at known breast cancer susceptibility loci, there was no evidence for an excess in associations by ER status beyond the number expected.</p></sec><sec id="Sec10"><title>Associations of previously reported breast cancer susceptibility loci</title><sec id="Sec11"><title>Associations with overall breast cancer and by tumor estrogen receptor status</title><p>First, we considered the associations with risk for overall breast cancer and for tumor subtypes for the 74 breast cancer susceptibility variants that have been reported up to April 2013. In light of the strong prior evidence of association, we considered associations at <italic>P</italic> <0.05 as evidence that a previously reported breast cancer susceptibility allele also modifies overall or ER-specific breast cancer risk in mutation carriers. The associations with overall breast cancer risk and risk of breast cancer subtypes for all 74 variants are given in Table <xref rid="Tab2" ref-type="table">2</xref> and Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Tables S4 to S10. Of the breast cancer susceptibility loci that had not previously been evaluated for an association in mutation carriers, SNPs at 5q33.3, 8q24.21, 11q24.3, 12q22, 16q12.1, 22q13.1 were associated with overall breast cancer risk for <italic>BRCA1</italic> carriers, and SNPs at 6p23, 11q24.3 and 16q12.1 were associated with breast cancer risk for <italic>BRCA2</italic> carriers at <italic>P</italic> <0.05 (Table <xref rid="Tab2" ref-type="table">2</xref>). Overall, 15 breast cancer susceptibility variants were associated with ER-negative breast cancer in <italic>BRCA1</italic> carriers and 8 variants in <italic>BRCA2</italic> carriers at <italic>P</italic> <0.05 (Table <xref rid="Tab2" ref-type="table">2</xref>). Ten significant associations with ER-positive breast cancer in <italic>BRCA1</italic> carriers and fourteen in <italic>BRCA2</italic> carriers were found. The strongest association with ER-positive breast cancer was observed for rs2981579 in <italic>FGFR2</italic> at 10q26.12 for both <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. SNP rs10069690 in <italic>TERT</italic> at 5p15.33 displayed the strongest association with ER-negative breast cancer for <italic>BRCA1</italic> carriers and rs9348512 at 6p24.3 for <italic>BRCA2</italic> carriers. We found significant differences in the associations by ER status for rs3803662 in <italic>TOX3</italic> at 16q12.1 (<italic>P</italic> = 2 × 10<sup>−4</sup>) and rs13387042 at 2q35 (<italic>P</italic> =0.002) for <italic>BRCA1</italic> carriers, which were not previously seen. Both SNPs showed evidence of association with ER-positive breast cancer only. Similarly, six of the loci that did not show evidence of association with overall breast cancer were associated with ER-positive and two with ER-negative breast cancer in <italic>BRCA1</italic> carriers. This included two of the loci not previously evaluated in mutation carriers: 3q26.1 and 6p25.3. In <italic>BRCA2</italic> carriers, four of the variants lacking evidence of association with overall breast cancer were associated with ER-negative and three with ER-positive breast cancer. This included four loci not previously evaluated in mutation carriers: 2q24, 14q13.3, 19q13.31 and 22q12.2. Of the breast cancer susceptibility loci that had not yet been evaluated for an association with breast cancer in mutation carriers, rs1011970 at <italic>CDKN2A/B</italic> and rs1292011 at 12q24.21 had significantly different associations with ER-positive and ER-negative cancer for <italic>BRCA1</italic> carriers (<italic>P</italic><sub>het</sub> = 0.009 and <italic>P</italic><sub>het</sub> = 0.004, respectively, for the difference between ER-positive and ER-negative). SNP rs2236007 at 14q13.3 displayed differences by ER status for <italic>BRCA2</italic> carriers (<italic>P</italic><sub>het</sub> = 0.008). These three SNPs had associations in different directions for ER-positive and ER-negative tumors.<table-wrap id="Tab2"><label>Table 2</label><caption><p><bold>Associations of susceptibility loci with overall and estrogen receptor-positive and -negative breast cancer</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th colspan="8"><italic>BRCA1</italic> carriers</th><th colspan="8"><italic>BRCA2</italic> carriers</th></tr><tr><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th>Overall</th><th></th><th>ER-negative</th><th></th><th>ER-positive</th><th></th><th></th><th></th><th>Overall</th><th></th><th>ER-negative</th><th></th><th>ER-positive</th><th></th><th></th></tr><tr><th>Locus</th><th>SNP</th><th>Position <sup>b</sup></th><th>Nearby gene</th><th>Ref <sup>c</sup></th><th>Eff <sup>d</sup></th><th>K <sup>e</sup></th><th>MAF</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th><italic>P</italic><sub>het</sub>-value <sup>f</sup></th><th>MAF</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th>HR (95% CI)</th><th><italic>P</italic> -value</th><th><italic>P</italic><sub>het</sub>-value <sup>f</sup></th></tr></thead><tbody><tr><td>1p36.22</td><td>rs616488</td><td>10566215</td><td><italic>PEX14</italic></td><td>A</td><td>G</td><td>No</td><td>0.32</td><td>0.96 (0.92 to 1.01)</td><td>0.10</td><td>0.95 (0.90 to 1.00)</td><td>0.07</td><td>1.00 (0.90 to 1.10)</td><td>0.92</td><td>0.47</td><td>0.33</td><td>0.98 (0.92 to 1.04)</td><td>0.52</td><td>1.01 (0.88 to 1.16)</td><td>0.94</td><td>0.97 (0.9 to 1.05)</td><td>0.46</td><td>0.69</td></tr><tr><td>1p13.2</td><td>rs12022378</td><td>114448389</td><td><italic>SYT6</italic></td><td>G</td><td>A</td><td>No</td><td>0.16</td><td>1.03 (0.98 to 1.09)</td><td>0.25</td><td>1.03 (0.97 to 1.10)</td><td>0.31</td><td>1.03 (0.90 to 1.17)</td><td>0.68</td><td>0.94</td><td>0.17</td><td>1.03 (0.95 to 1.12)</td><td>0.42</td><td>1.16 (0.97 to 1.37)</td><td>0.10</td><td>1.00 (0.91 to 1.1)</td><td>1.00</td><td>0.15</td></tr><tr><td>1p11.2</td><td>rs11249433</td><td>121280613</td><td><italic>FCGR1B</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.41</td><td>0.99 (0.95 to 1.04)</td><td>0.78</td><td>0.99 (0.94 to 1.03)</td><td>0.55</td><td>1.02 (0.93 to 1.13)</td><td>0.63</td><td>0.50</td><td>0.41</td><td>1.05 (0.99 to 1.12)</td><td>0.09</td><td>1.04 (0.91 to 1.19)</td><td>0.57</td><td>1.06 (0.99 to 1.13)</td><td>0.12</td><td>0.84</td></tr><tr><td>1q32.1a</td><td>rs6678914</td><td>202187176</td><td><italic>LGR6</italic></td><td>G</td><td>A</td><td>No</td><td>0.4</td><td>0.98 (0.94 to 1.02)</td><td>0.39</td><td>0.96 (0.91 to 1.01)</td><td>0.08</td><td>1.06 (0.97 to 1.17)</td><td>0.21</td><td>0.07</td><td>0.41</td><td>1.04 (0.98 to 1.10)</td><td>0.19</td><td>0.94 (0.82 to 1.08)</td><td>0.39</td><td>1.07 (1.00 to 1.15)</td><td>0.05</td><td>0.11</td></tr><tr><td>1q32.1b</td><td>rs4245739</td><td>204518842</td><td><italic>MDM4</italic></td><td>A</td><td>C</td><td>Yes</td><td>0.28</td><td>1.10 (1.05 to 1.15)</td><td><bold>4.6 × 10</bold><sup><bold>−5</bold></sup></td><td>1.12 (1.07 to 1.19)</td><td><bold>1.4 × 10</bold><sup><bold>−5</bold></sup></td><td>1.02 (0.91 to 1.13)</td><td>0.76</td><td>0.11</td><td>0.28</td><td>0.97 (0.91 to 1.04)</td><td>0.38</td><td>1.09 (0.95 to 1.26)</td><td>0.21</td><td>0.94 (0.87 to 1.01)</td><td>0.10</td><td>0.07</td></tr><tr><td>2p24.1</td><td>rs12710696</td><td>19320803</td><td><italic>OSR1</italic></td><td>G</td><td>A</td><td>No</td><td>0.39</td><td>1.01 (0.97 to 1.06)</td><td>0.51</td><td>1.01 (0.97 to 1.07)</td><td>0.57</td><td>1.01 (0.92 to 1.12)</td><td>0.77</td><td>1.00</td><td>0.38</td><td>1.00 (0.94 to 1.06)</td><td>0.99</td><td>1.14 (1.00 to 1.30)</td><td><bold>0.05</bold></td><td>0.96 (0.9 to 1.03)</td><td>0.28</td><td><bold>0.02</bold></td></tr><tr><td>2q14.2</td><td>rs4849887</td><td>121245122</td><td></td><td>G</td><td>A</td><td>No</td><td>0.11</td><td>1.02 (0.96 to 1.09)</td><td>0.53</td><td>1.01 (0.94 to 1.09)</td><td>0.78</td><td>1.05(0.90 to 1.23)</td><td>0.49</td><td>0.64</td><td>0.11</td><td>0.98 (0.89 to 1.08)</td><td>0.72</td><td>1.08 (0.87 to 1.33)</td><td>0.49</td><td>0.96 (0.85 to 1.07)</td><td>0.43</td><td>0.34</td></tr><tr><td>2q31.1</td><td>rs2016394</td><td>172972971</td><td><italic>DLX2</italic></td><td>G</td><td>A</td><td>No</td><td>0.47</td><td>1.01 (0.97 to 1.06)</td><td>0.54</td><td>1.03 (0.98 to 1.08)</td><td>0.23</td><td>0.96 (0.87 to 1.06)</td><td>0.39</td><td>0.21</td><td>0.46</td><td>0.99 (0.93 to 1.05)</td><td>0.74</td><td>1.07 (0.94 to 1.22)</td><td>0.32</td><td>0.97 (0.9 to 1.04)</td><td>0.36</td><td>0.21</td></tr><tr><td>2q31.1</td><td>rs1550623</td><td>174212894</td><td><italic>CDCA7</italic></td><td>A</td><td>G</td><td>No</td><td>0.15</td><td>1.01 (0.95 to 1.07)</td><td>0.72</td><td>1.02 (0.95 to 1.09)</td><td>0.54</td><td>0.97 (0.85 to 1.12)</td><td>0.72</td><td>0.57</td><td>0.15</td><td>0.97 (0.89 to 1.06)</td><td>0.49</td><td>1.03 (0.87 to 1.23)</td><td>0.70</td><td>0.95 (0.87 to 1.05)</td><td>0.31</td><td>0.41</td></tr><tr><td>2q35</td><td>rs13387042</td><td>217905832</td><td><italic>TNP1</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.47</td><td>0.98 (0.94 to 1.02)</td><td>0.41</td><td>1.02 (0.97 to 1.07)</td><td>0.37</td><td>0.86 (0.78 to 0.95)</td><td><bold>1.9 × 10</bold><sup><bold>−3</bold></sup></td><td><bold>2.3 × 10</bold><sup><bold>−3</bold></sup></td><td>0.48</td><td>0.99 (0.93 to 1.05)</td><td>0.68</td><td>0.98 (0.87 to 1.12)</td><td>0.82</td><td>0.99 (0.93 to 1.06)</td><td>0.74</td><td>0.96</td></tr><tr><td>2q35</td><td>rs16857609</td><td>218296508</td><td><italic>DIRC3</italic></td><td>G</td><td>A</td><td>No</td><td>0.26</td><td>1.04 (1.00 to 1.09)</td><td>0.06</td><td>1.03 (0.98 to 1.09)</td><td>0.23</td><td>1.08 (0.97 to 1.21)</td><td>0.14</td><td>0.47</td><td>0.27</td><td>0.96 (0.90 to 1.03)</td><td>0.26</td><td>0.87 (0.74 to 1.01)</td><td>0.08</td><td>0.99 (0.92 to 1.07)</td><td>0.82</td><td>0.14</td></tr><tr><td>3p26.1</td><td>rs6762644</td><td>4742276</td><td><italic>ITPR1</italic></td><td>A</td><td>G</td><td>No</td><td>0.36</td><td>1.04 (0.99 to 1.08)</td><td>0.09</td><td>1.00 (0.95 to 1.05)</td><td>0.92</td><td>1.16 (1.05 to 1.28)</td><td><bold>2.9 × 10</bold><sup><bold>−3</bold></sup></td><td><bold>0.01</bold></td><td>0.37</td><td>0.98 (0.93 to 1.05)</td><td>0.61</td><td>1.08 (0.94 to 1.24)</td><td>0.27</td><td>0.96 (0.89 to 1.03)</td><td>0.24</td><td>0.13</td></tr><tr><td>3p24.1</td><td>rs4973768</td><td>27416013</td><td><italic>SLC4A7</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.49</td><td>1.01 (0.97 to 1.06)</td><td>0.47</td><td>0.99 (0.95 to 1.04)</td><td>0.81</td><td>1.09 (0.99 to 1.19)</td><td>0.07</td><td>0.10</td><td>0.5</td><td>1.08 (1.02 to 1.15)</td><td><bold>7.8 × 10</bold><sup><bold>−3</bold></sup></td><td>1.05 (0.92 to 1.20)</td><td>0.46</td><td>1.10 (1.02 to 1.18)</td><td><bold>0.01</bold></td><td>0.58</td></tr><tr><td>3p24.1</td><td>rs12493607</td><td>30682939</td><td><italic>TGFBR2</italic></td><td>C</td><td>G</td><td>No</td><td>0.35</td><td>0.99 (0.95 to 1.04)</td><td>0.73</td><td>0.99 (0.94 to 1.04)</td><td>0.63</td><td>1.01 (0.92 to 1.11)</td><td>0.85</td><td>0.70</td><td>0.34</td><td>0.98 (0.92 to 1.04)</td><td>0.54</td><td>1.07 (0.93 to 1.22)</td><td>0.35</td><td>0.96 (0.89 to 1.03)</td><td>0.23</td><td>0.17</td></tr><tr><td>4q24</td><td>rs9790517</td><td>106084778</td><td><italic>TET2</italic></td><td>G</td><td>A</td><td>No</td><td>0.23</td><td>0.98 (0.94 to 1.03)</td><td>0.51</td><td>0.97 (0.92 to 1.03)</td><td>0.30</td><td>1.03 (0.92 to 1.15)</td><td>0.61</td><td>0.37</td><td>0.22</td><td>0.97 (0.91 to 1.05)</td><td>0.48</td><td>0.91 (0.77 to 1.07)</td><td>0.25</td><td>0.99 (0.91 to 1.08)</td><td>0.88</td><td>0.35</td></tr><tr><td>4q34.1</td><td>rs6828523</td><td>175846426</td><td><italic>EBF1</italic></td><td>C</td><td>A</td><td>No</td><td>0.11</td><td>1.03 (0.96 to 1.1)</td><td>0.41</td><td>1.03 (0.95 to 1.11)</td><td>0.47</td><td>1.02 (0.88 to 1.19)</td><td>0.78</td><td>0.94</td><td>0.1</td><td>0.98 (0.89 to 1.08)</td><td>0.72</td><td>1.05 (0.85 to 1.30)</td><td>0.64</td><td>0.96 (0.86 to 1.08)</td><td>0.51</td><td>0.49</td></tr><tr><td>5p15.33</td><td>rs10069690</td><td>1279790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.28</td><td>1.21 (1.15 to 1.26)</td><td><bold>1.1 × 10</bold><sup><bold>−15</bold></sup></td><td>1.24 (1.18 to 1.31)</td><td><bold>2.7 × 10</bold><sup><bold>−15</bold></sup></td><td>1.09 (0.98 to 1.22)</td><td>0.09</td><td><bold>0.04</bold></td><td>0.27</td><td>1.11 (1.04 to 1.19)</td><td><bold>1.6 × 10</bold><sup><bold>−3</bold></sup></td><td>1.25 (1.08 to 1.44)</td><td><bold>3.2 × 10</bold><sup><bold>−3</bold></sup></td><td>1.08 (1.00 to 1.17)</td><td>0.06</td><td>0.09</td></tr><tr><td>5p15.33</td><td>rs7725218</td><td>1282414</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.36</td><td>1.08 (1.04 to 1.13)</td><td><bold>3.2 × 10</bold><sup><bold>−4</bold></sup></td><td>1.09 (1.04 to 1.15)</td><td><bold>6.4 × 10</bold><sup><bold>−4</bold></sup></td><td>1.05 (0.95 to 1.15)</td><td>0.37</td><td>0.47</td><td>0.36</td><td>1.06 (0.99 to 1.12)</td><td>0.08</td><td>1.07 (0.93 to 1.23)</td><td>0.35</td><td>1.05 (0.98 to 1.13)</td><td>0.17</td><td>0.85</td></tr><tr><td>5p15.33</td><td>rs2736108</td><td>1297488</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.29</td><td>0.89 (0.85 to 0.93)</td><td><bold>4.2 × 10</bold><sup><bold>−7</bold></sup></td><td>0.86 (0.82 to 0.91)</td><td><bold>1.1 × 10</bold><sup><bold>−7</bold></sup></td><td>0.98 (0.88 to 1.08)</td><td>0.68</td><td><bold>0.04</bold></td><td>0.3</td><td>0.93(0.88 to 1.00)</td><td><bold>0.04</bold></td><td>0.91 (0.78 to 1.05)</td><td>0.20</td><td>0.94 (0.87 to 1.02)</td><td>0.13</td><td>0.67</td></tr><tr><td>5p12</td><td>rs10941679</td><td>44706498</td><td><italic>MRPS30</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.25</td><td>0.99 (0.94 to 1.04)</td><td>0.61</td><td>0.99 (0.94 to 1.05)</td><td>0.84</td><td>0.97 (0.86 to 1.08)</td><td>0.54</td><td>0.66</td><td>0.24</td><td>1.07 (1.00 to 1.15)</td><td><bold>0.03</bold></td><td>1.09 (0.94 to 1.27)</td><td>0.24</td><td>1.07 (0.99 to 1.15)</td><td>0.09</td><td>0.78</td></tr><tr><td>5q11.2</td><td>rs889312</td><td>56031884</td><td><italic>MAP3K1</italic></td><td>A</td><td>C</td><td>Yes</td><td>0.29</td><td>1.01 (0.97 to 1.06)</td><td>0.52</td><td>0.99 (0.94 to 1.05)</td><td>0.82</td><td>1.09 (0.98 to 1.21)</td><td>0.12</td><td>0.15</td><td>0.3</td><td>1.04 (0.98 to 1.11)</td><td>0.21</td><td>0.99 (0.86 to 1.14)</td><td>0.90</td><td>1.06 (0.98 to 1.14)</td><td>0.14</td><td>0.44</td></tr><tr><td>5q11.3</td><td>rs10472076</td><td>58184061</td><td><italic>RAB3C</italic></td><td>A</td><td>G</td><td>No</td><td>0.37</td><td>1.00 (0.96 to 1.05)</td><td>0.83</td><td>0.98 (0.94 to 1.03)</td><td>0.52</td><td>1.08 (0.98 to 1.18)</td><td>0.13</td><td>0.11</td><td>0.38</td><td>0.99 (0.93 to 1.05)</td><td>0.78</td><td>1.02 (0.89 to 1.17)</td><td>0.78</td><td>0.98 (0.92 to 1.05)</td><td>0.64</td><td>0.66</td></tr><tr><td>5q11.3</td><td>rs1353747</td><td>58337481</td><td><italic>PDE4D</italic></td><td>A</td><td>C</td><td>No</td><td>0.09</td><td>0.98 (0.91 to 1.05)</td><td>0.53</td><td>0.95 (0.88 to 1.04)</td><td>0.28</td><td>1.06 (0.90 to 1.24)</td><td>0.50</td><td>0.29</td><td>0.09</td><td>0.95 (0.86 to 1.05)</td><td>0.35</td><td>1.02 (0.81 to 1.27)</td><td>0.88</td><td>0.94 (0.83 to 1.05)</td><td>0.26</td><td>0.52</td></tr><tr><td>5q33.3</td><td>rs1432679</td><td>158244083</td><td></td><td>A</td><td>G</td><td>No</td><td>0.44</td><td>1.05 (1.00 to 1.09)</td><td><bold>0.03</bold></td><td>1.03 (0.98 to 1.08)</td><td>0.25</td><td>1.10 (1.01 to 1.21)</td><td><bold>0.04</bold></td><td>0.21</td><td>0.45</td><td>1.01 (0.95 to 1.07)</td><td>0.79</td><td>0.92 (0.81 to 1.04)</td><td>0.16</td><td>1.04 (0.97 to 1.11)</td><td>0.30</td><td>0.09</td></tr><tr><td>6p25.3</td><td>rs11242675</td><td>1318878</td><td><italic>FOXQ1</italic></td><td>A</td><td>G</td><td>No</td><td>0.35</td><td>0.96 (0.92 to 1)</td><td>0.06</td><td>0.94 (0.90 to 0.99)</td><td><bold>0.03</bold></td><td>1.01 (0.91 to 1.11)</td><td>0.90</td><td>0.28</td><td>0.36</td><td>1.01 (0.95 to 1.07)</td><td>0.79</td><td>1.02 (0.89 to 1.18)</td><td>0.75</td><td>1.00 (0.93 to 1.08)</td><td>0.90</td><td>0.83</td></tr><tr><td>6p24.3</td><td>rs9348512</td><td>10456706</td><td><italic>TFAP2A</italic></td><td>C</td><td>A</td><td>Yes</td><td>0.34</td><td>1.00 (0.95 to 1.04)</td><td>0.87</td><td>1.00 (0.95 to 1.05)</td><td>0.88</td><td>1.00 (0.90 to 1.10)</td><td>0.95</td><td>1.00</td><td>0.34</td><td>0.85 (0.8 to 0.9)</td><td><bold>9.2 × 10</bold><sup><bold>−8</bold></sup></td><td>0.79 (0.69 to 0.91)</td><td><bold>1.1 × 10</bold><sup><bold>−3</bold></sup></td><td>0.86 (0.8 to 0.92)</td><td><bold>3.4 × 10</bold><sup><bold>−5</bold></sup></td><td>0.32</td></tr><tr><td>6p23</td><td>rs204247</td><td>13722523</td><td><italic>RANBP9</italic></td><td>A</td><td>G</td><td>No</td><td>0.44</td><td>1.00 (0.96 to 1.04)</td><td>0.98</td><td>1.00 (0.95 to 1.04)</td><td>0.84</td><td>1.01 (0.92 to 1.12)</td><td>0.75</td><td>0.72</td><td>0.44</td><td>1.09 (1.03 to 1.15)</td><td><bold>3.4 × 10</bold><sup><bold>−3</bold></sup></td><td>1.08 (0.94 to 1.24)</td><td>0.25</td><td>1.09 (1.02 to 1.17)</td><td><bold>9.7 × 10</bold><sup><bold>−3</bold></sup></td><td>0.93</td></tr><tr><td>6q14</td><td>rs17530068</td><td>82193109</td><td><italic>FAM46A</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.25</td><td>1.03 (0.98 to 1.08)</td><td>0.23</td><td>1.03 (0.97 to 1.09)</td><td>0.29</td><td>1.03 (0.92 to 1.14)</td><td>0.63</td><td>0.95</td><td>0.25</td><td>1.10 (1.03 to 1.18)</td><td><bold>7.2 × 10</bold><sup><bold>−3</bold></sup></td><td>1.07 (0.92 to 1.25)</td><td>0.40</td><td>1.11 (1.02 to 1.2)</td><td><bold>0.01</bold></td><td>0.70</td></tr><tr><td>6q25.1</td><td>rs3757318</td><td>151914113</td><td><italic>ESR1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.08</td><td>1.20 (1.11 to 1.29)</td><td><bold>1.1 × 10</bold><sup><bold>−6</bold></sup></td><td>1.24 (1.14 to 1.35)</td><td><bold>5.6 × 10</bold><sup><bold>−7</bold></sup></td><td>1.06 (0.89 to 1.26)</td><td>0.51</td><td>0.12</td><td>0.09</td><td>1.15 (1.03 to 1.28)</td><td><bold>0.01</bold></td><td>1.33 (1.07 to 1.65)</td><td><bold>9.1 × 10</bold><sup><bold>−3</bold></sup></td><td>1.09 (0.96 to 1.24)</td><td>0.17</td><td>0.12</td></tr><tr><td>6q25.1</td><td>rs2046210</td><td>151948366</td><td><italic>ESR1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.37</td><td>1.16 (1.12 to 1.21)</td><td><bold>2.4 × 10</bold><sup><bold>−12</bold></sup></td><td>1.20 (1.15 to 1.26)</td><td><bold>2.8 × 10</bold><sup><bold>−13</bold></sup></td><td>1.04 (0.94 to 1.15)</td><td>0.42</td><td><bold>0.01</bold></td><td>0.37</td><td>1.06 (0.99 to 1.12)</td><td>0.07</td><td>1.15 (1.00 to 1.33)</td><td><bold>0.04</bold></td><td>1.03 (0.96 to 1.1)</td><td>0.43</td><td>0.17</td></tr><tr><td>7q35</td><td>rs720475</td><td>144074929</td><td><italic>ARHGEF5</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.26</td><td>0.98 (0.93 to 1.03)</td><td>0.36</td><td>0.98 (0.93 to 1.04)</td><td>0.54</td><td>0.96 (0.86 to 1.08)</td><td>0.53</td><td>0.79</td><td>0.26</td><td>0.99 (0.92 to 1.06)</td><td>0.71</td><td>0.94 (0.80 to 1.09)</td><td>0.41</td><td>1.00 (0.93 to 1.08)</td><td>0.96</td><td>0.45</td></tr><tr><td>8p12</td><td>rs9693444</td><td>29509616</td><td><italic>DUSP4</italic></td><td>C</td><td>A</td><td>Yes</td><td>0.33</td><td>1.01 (0.96 to 1.05)</td><td>0.80</td><td>1.01 (0.96 to 1.06)</td><td>0.69</td><td>0.99 (0.90 to 1.09)</td><td>0.83</td><td>0.72</td><td>0.33</td><td>0.98 (0.93 to 1.05)</td><td>0.61</td><td>0.92 (0.80 to 1.07)</td><td>0.28</td><td>1.00 (0.94 to 1.07)</td><td>0.94</td><td>0.32</td></tr><tr><td>8q21.11</td><td>rs6472903</td><td>76230301</td><td></td><td>A</td><td>C</td><td>Yes</td><td>0.17</td><td>1.01 (0.96 to 1.07)</td><td>0.74</td><td>1.01 (0.95 to 1.08)</td><td>0.77</td><td>1.01 (0.89 to 1.14)</td><td>0.89</td><td>0.99</td><td>0.16</td><td>0.97 (0.90 to 1.05)</td><td>0.48</td><td>0.95 (0.79 to 1.14)</td><td>0.56</td><td>0.98 (0.89 to 1.07)</td><td>0.66</td><td>0.75</td></tr><tr><td>8q21.11</td><td>rs2943559</td><td>76417937</td><td><italic>HNF4G</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.08</td><td>1.06 (0.98 to 1.14)</td><td>0.12</td><td>1.07 (0.98 to 1.17)</td><td>0.12</td><td>1.02 (0.86 to 1.22)</td><td>0.78</td><td>0.68</td><td>0.09</td><td>1.10 (1.00 to 1.22)</td><td>0.05</td><td>1.14 (0.91 to 1.43)</td><td>0.27</td><td>1.09 (0.97 to 1.23)</td><td>0.13</td><td>0.77</td></tr><tr><td>8q24.21</td><td>rs11780156</td><td>129194641</td><td><italic>MYC</italic></td><td>G</td><td>A</td><td>No</td><td>0.19</td><td>0.95 (0.9 to 1)</td><td><bold>0.05</bold></td><td>0.96 (0.90 to 1.02)</td><td>0.15</td><td>0.93 (0.82 to 1.05)</td><td>0.23</td><td>0.70</td><td>0.19</td><td>0.97 (0.90 to 1.04)</td><td>0.44</td><td>0.95 (0.81 to 1.12)</td><td>0.56</td><td>0.98 (0.9 to 1.06)</td><td>0.60</td><td>0.79</td></tr><tr><td>8q24.21</td><td>rs13281615</td><td>128355618</td><td></td><td>A</td><td>G</td><td>Yes</td><td>0.43</td><td>1.02 (0.98 to 1.06)</td><td>0.44</td><td>1.01 (0.96 to 1.06)</td><td>0.73</td><td>1.04 (0.95 to 1.15)</td><td>0.38</td><td>0.55</td><td>0.43</td><td>1.03 (0.97 to 1.09)</td><td>0.33</td><td>1.05 (0.92 to 1.20)</td><td>0.44</td><td>1.02 (0.96 to 1.1)</td><td>0.51</td><td>0.71</td></tr><tr><td>9p21.3</td><td>rs1011970</td><td>22062134</td><td><italic>CDKN2B</italic></td><td>C</td><td>A</td><td>Yes</td><td>0.17</td><td>1.02 (0.97 to 1.08)</td><td>0.47</td><td>1.07 (1.00 to 1.14)</td><td>0.05</td><td>0.87 (0.76 to 0.99)</td><td><bold>0.04</bold></td><td><bold>9.3 × 10</bold><sup><bold>−3</bold></sup></td><td>0.17</td><td>1.03 (0.95 to 1.11)</td><td>0.50</td><td>1.11 (0.94 to 1.32)</td><td>0.21</td><td>1.00 (0.92 to 1.1)</td><td>0.95</td><td>0.29</td></tr><tr><td>9q31.2</td><td>rs10759243</td><td>110306115</td><td><italic>KLF4</italic></td><td>C</td><td>A</td><td>No</td><td>0.31</td><td>0.98 (0.94 to 1.02)</td><td>0.39</td><td>0.98 (0.93 to 1.03)</td><td>0.49</td><td>0.98 (0.88 to 1.08)</td><td>0.64</td><td>0.93</td><td>0.29</td><td>1.00 (0.94 to 1.06)</td><td>0.94</td><td>0.94 (0.81 to 1.09)</td><td>0.40</td><td>1.01 (0.94 to 1.09)</td><td>0.69</td><td>0.37</td></tr><tr><td>9q31.2</td><td>rs865686</td><td>110888478</td><td><italic>KLF4</italic></td><td>A</td><td>C</td><td>Yes</td><td>0.36</td><td>0.99 (0.95 to 1.04)</td><td>0.77</td><td>1.02 (0.97 to 1.07)</td><td>0.52</td><td>0.92 (0.83 to 1.02)</td><td>0.11</td><td>0.10</td><td>0.36</td><td>0.99 (0.93 to 1.05)</td><td>0.75</td><td>1.16 (1.01 to 1.34)</td><td><bold>0.04</bold></td><td>0.94 (0.88 to 1.01)</td><td>0.12</td><td><bold>0.01</bold></td></tr><tr><td>10p12.31</td><td>rs7072776</td><td>22032942</td><td><italic>MLLT10</italic></td><td>G</td><td>A</td><td>No</td><td>0.31</td><td>0.99 (0.94 to 1.03)</td><td>0.52</td><td>0.96 (0.91 to 1.01)</td><td>0.11</td><td>1.08 (0.98 to 1.20)</td><td>0.12</td><td><bold>0.04</bold></td><td>0.3</td><td>0.99 (0.92 to 1.05)</td><td>0.67</td><td>0.88 (0.77 to 1.02)</td><td>0.08</td><td>1.02 (0.94 to 1.09)</td><td>0.66</td><td>0.09</td></tr><tr><td>10p12.31</td><td>rs11814448</td><td>22315843</td><td><italic>DNAJC1</italic></td><td>A</td><td>C</td><td>No</td><td>0.02</td><td></td><td></td><td>1.10 (0.94 to 1.29)</td><td>0.22</td><td>1.25 (0.93 to 1.69)</td><td>0.15</td><td>0.50</td><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td></td></tr><tr><td>10q21.2</td><td>rs10995190</td><td>64278682</td><td><italic>ZNF365</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.15</td><td>0.99 (0.93 to 1.05)</td><td>0.70</td><td>1.02 (0.96 to 1.09)</td><td>0.49</td><td>0.88 (0.76 to 1.00)</td><td>0.06</td><td>0.05</td><td>0.15</td><td>0.94 (0.86 to 1.02)</td><td>0.16</td><td>0.92 (0.76 to 1.12)</td><td>0.43</td><td>0.95 (0.86 to 1.04)</td><td>0.26</td><td>0.84</td></tr><tr><td>10q22.3</td><td>rs704010</td><td>80841148</td><td><italic>ZMIZ1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.37</td><td>1.01 (0.97 to 1.06)</td><td>0.48</td><td>0.99(0.94 to 1.04)</td><td>0.61</td><td>1.12 (1.01 to 1.23)</td><td><bold>0.03</bold></td><td><bold>0.03</bold></td><td>0.38</td><td>1.01 (0.95 to 1.07)</td><td>0.86</td><td>1.02 (0.90 to 1.16)</td><td>0.78</td><td>1.00 (0.93 to 1.07)</td><td>0.96</td><td>0.83</td></tr><tr><td>10q25.2</td><td>rs7904519</td><td>114773927</td><td><italic>TCF7L2</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.47</td><td>1.09 (1.05 to 1.14)</td><td><bold>1.6 × 10</bold><sup><bold>−5</bold></sup></td><td>1.09 (1.04 to 1.14)</td><td><bold>6.4 × 10</bold><sup><bold>−4</bold></sup></td><td>1.12 (1.02 to 1.23)</td><td><bold>0.02</bold></td><td>0.59</td><td>0.47</td><td>1.02 (0.96 to 1.08)</td><td>0.56</td><td>0.89 (0.78 to 1.01)</td><td>0.07</td><td>1.06 (0.99 to 1.13)</td><td>0.10</td><td><bold>0.02</bold></td></tr><tr><td>10q26.12</td><td>rs2981579</td><td>123337335</td><td><italic>FGFR2</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.42</td><td>0.99 (0.95 to 1.04)</td><td>0.81</td><td>0.92 (0.87 to 0.96)</td><td><bold>6.9 × 10</bold><sup><bold>−4</bold></sup></td><td>1.29 (1.17 to 1.43)</td><td><bold>3.1 × 10</bold><sup><bold>−7</bold></sup></td><td><bold>7.5 × 10</bold><sup><bold>−9</bold></sup></td><td>0.44</td><td>1.24 (1.16 to 1.31)</td><td><bold>5.4 × 10</bold><sup><bold>−12</bold></sup></td><td>1.05 (0.92 to 1.20)</td><td>0.44</td><td>1.29 (1.21 to 1.38)</td><td><bold>2.2 × 10</bold><sup><bold>−13</bold></sup></td><td><bold>7.3 × 10</bold><sup><bold>−3</bold></sup></td></tr><tr><td>10q26.12</td><td>rs11199914</td><td>123093901</td><td><italic>FGFR2</italic></td><td>G</td><td>A</td><td>No</td><td>0.33</td><td>1.02 (0.98 to 1.07)</td><td>0.27</td><td>1.04 (0.99 to 1.10)</td><td>0.09</td><td>0.96 (0.86 to 1.06)</td><td>0.43</td><td>0.17</td><td>0.33</td><td>0.95 (0.90 to 1.02)</td><td>0.15</td><td>0.90 (0.78 to 1.03)</td><td>0.13</td><td>0.97 (0.9 to 1.04)</td><td>0.44</td><td>0.33</td></tr><tr><td>11p15.5</td><td>rs3817198</td><td>1909006</td><td><italic>LSP1</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.33</td><td>1.08 (1.03 to 1.13)</td><td><bold>6.5 × 10</bold><sup><bold>−4</bold></sup></td><td>1.08 (1.03 to 1.14)</td><td><bold>2.9 × 10</bold><sup><bold>−3</bold></sup></td><td>1.07 (0.97 to 1.18)</td><td>0.17</td><td>0.89</td><td>0.34</td><td>1.11 (1.04 to 1.18)</td><td><bold>9.3 × 10</bold><sup><bold>−4</bold></sup></td><td>0.98 (0.85 to 1.13)</td><td>0.80</td><td>1.15 (1.07 to 1.24)</td><td><bold>1.1 × 10</bold><sup><bold>−4</bold></sup></td><td>0.06</td></tr><tr><td>11q13.1</td><td>rs3903072</td><td>65583066</td><td><italic>SNX32</italic></td><td>C</td><td>A</td><td>No</td><td>0.47</td><td>0.99 (0.95 to 1.03)</td><td>0.69</td><td>1.00 (0.95 to 1.05)</td><td>0.94</td><td>0.96 (0.87 to 1.05)</td><td>0.39</td><td>0.44</td><td>0.47</td><td>0.97 (0.91 to 1.03)</td><td>0.34</td><td>0.89 (0.78 to 1.01)</td><td>0.07</td><td>1.00 (0.93 to 1.07)</td><td>0.91</td><td>0.12</td></tr><tr><td>11q13.3</td><td>rs554219</td><td>69331642</td><td><italic>CCND1</italic></td><td>C</td><td>G</td><td>Yes</td><td>0.12</td><td>1.03 (0.97 to 1.09)</td><td>0.37</td><td>1.00 (0.93 to 1.08)</td><td>0.96</td><td>1.12 (0.97 to 1.29)</td><td>0.12</td><td>0.20</td><td>0.13</td><td>1.09 (1.00 to 1.19)</td><td><bold>0.05</bold></td><td>0.90 (0.73 to 1.10)</td><td>0.31</td><td>1.15 (1.04 to 1.26)</td><td><bold>5.0 × 10</bold><sup><bold>−3</bold></sup></td><td><bold>0.04</bold></td></tr><tr><td>11q13.3</td><td>c11_pos69088342</td><td>69379161</td><td></td><td>C</td><td>A</td><td>Yes</td><td>0.06</td><td>1.03 (0.95 to 1.13)</td><td>0.45</td><td>1.00 (0.90 to 1.12)</td><td>0.95</td><td>1.14 (0.93 to 1.39)</td><td>0.20</td><td>0.30</td><td>0.06</td><td>1.07 (0.95 to 1.21)</td><td>0.28</td><td>0.85 (0.64 to 1.14)</td><td>0.29</td><td>1.14 (0.99 to 1.3)</td><td>0.08</td><td>0.09</td></tr><tr><td>11q13.3</td><td>rs494406</td><td>69344241</td><td></td><td>G</td><td>A</td><td>Yes</td><td>0.25</td><td>1.02 (0.97 to 1.07)</td><td>0.46</td><td>1.02 (0.97 to 1.08)</td><td>0.42</td><td>1.00 (0.90 to 1.12)</td><td>0.97</td><td>0.74</td><td>0.26</td><td>1.05 (0.98 to 1.12)</td><td>0.16</td><td>1.03 (0.89 to 1.19)</td><td>0.66</td><td>1.05 (0.98 to 1.14)</td><td>0.18</td><td>0.80</td></tr><tr><td>11q24.3</td><td>rs11820646</td><td>129461171</td><td><italic>BARX2</italic></td><td>G</td><td>A</td><td>No</td><td>0.39</td><td>0.93 (0.89 to 0.97)</td><td><bold>5.9 × 10</bold><sup><bold>−4</bold></sup></td><td>0.94 (0.90 to 0.99)</td><td><bold>0.03</bold></td><td>0.88 (0.79 to 0.97)</td><td><bold>8.9 × 10</bold><sup><bold>−3</bold></sup></td><td>0.20</td><td>0.39</td><td>0.92 (0.86 to 0.97)</td><td><bold>4.2 × 10</bold><sup><bold>−3</bold></sup></td><td>0.95 (0.83 to 1.09)</td><td>0.45</td><td>0.91 (0.84 to 0.97)</td><td><bold>5.9 × 10</bold><sup><bold>−3</bold></sup></td><td>0.56</td></tr><tr><td>12p13.1</td><td>rs12422552</td><td>14413931</td><td><italic>ATF7IP</italic></td><td>G</td><td>C</td><td>No</td><td>0.27</td><td>1.01 (0.97 to 1.06)</td><td>0.63</td><td>1.01 (0.96 to 1.07)</td><td>0.68</td><td>1.01 (0.91 to 1.13)</td><td>0.85</td><td>0.99</td><td>0.28</td><td>1.00 (0.93 to 1.06)</td><td>0.92</td><td>1.02 (0.88 to 1.19)</td><td>0.79</td><td>0.99 (0.92 to 1.07)</td><td>0.79</td><td>0.73</td></tr><tr><td>12p11.22</td><td>rs10771399</td><td>28155080</td><td><italic>PTHLH</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.10</td><td>0.85 (0.80 to 0.91)</td><td><bold>1.9 × 10</bold><sup><bold>−6</bold></sup></td><td>0.83 (0.77 to 0.9)</td><td><bold>1.2 × 10</bold><sup><bold>−5</bold></sup></td><td>0.91 (0.78 to 1.06)</td><td>0.24</td><td>0.36</td><td>0.1</td><td>0.89 (0.81 to 0.98)</td><td><bold>0.02</bold></td><td>0.72 (0.56 to 0.91)</td><td><bold>6.6 × 10</bold><sup><bold>−3</bold></sup></td><td>0.94 (0.84 to 1.05)</td><td>0.25</td><td>0.05</td></tr><tr><td>12q22</td><td>rs17356907</td><td>96027759</td><td><italic>NTN4</italic></td><td>A</td><td>G</td><td>No</td><td>0.29</td><td>0.95 (0.91 to 1.00)</td><td><bold>0.03</bold></td><td>0.94 (0.90 to 1.00)</td><td><bold>0.03</bold></td><td>0.98 (0.88 to 1.09)</td><td>0.71</td><td>0.56</td><td>0.3</td><td>0.99 (0.93 to 1.06)</td><td>0.78</td><td>0.95 (0.83 to 1.10)</td><td>0.51</td><td>1.00 (0.93 to 1.08)</td><td>0.96</td><td>0.55</td></tr><tr><td>12q24.21</td><td>rs1292011</td><td>115836522</td><td><italic>TBX3</italic></td><td>A</td><td>G</td><td>Yes</td><td>0.41</td><td>1.00 (0.96 to 1.05)</td><td>0.82</td><td>1.04 (0.99 to 1.10)</td><td>0.08</td><td>0.88 (0.80 to 0.97)</td><td><bold>0.01</bold></td><td><bold>4.39 × 10</bold><sup><bold>−3</bold></sup></td><td>0.41</td><td>0.92 (0.87 to 0.98)</td><td><bold>0.01</bold></td><td>1.07 (0.94 to 1.23)</td><td>0.29</td><td>0.88 (0.82 to 0.95)</td><td><bold>5.7 × 10</bold><sup><bold>−4</bold></sup></td><td><bold>0.01</bold></td></tr><tr><td>13q13.1</td><td>rs11571833</td><td>32972626</td><td><italic>BRCA2</italic></td><td>T</td><td>A</td><td>No</td><td>0.01</td><td>1.02 (0.83 to 1.26)</td><td>0.83</td><td>1.05 (0.83 to 1.34)</td><td>0.66</td><td>0.92 (0.53 to 1.59)</td><td>0.75</td><td>0.66</td><td>0.03</td><td>0.95 (0.78 to 1.16)</td><td>0.62</td><td>0.91 (0.58 to 1.41)</td><td>0.66</td><td>0.97 (0.78 to 1.2)</td><td>0.76</td><td>0.80</td></tr><tr><td>14q13.3</td><td>rs2236007</td><td>37132769</td><td><italic>PAX9</italic></td><td>G</td><td>A</td><td>No</td><td>0.21</td><td>0.97 (0.92 to 1.02)</td><td>0.19</td><td>0.95 (0.90 to 1.01)</td><td>0.13</td><td>1.01 (0.90 to 1.14)</td><td>0.87</td><td>0.42</td><td>0.21</td><td>0.99 (0.92 to 1.07)</td><td>0.83</td><td>1.20 (1.03 to 1.40)</td><td><bold>0.02</bold></td><td>0.94 (0.86 to 1.02)</td><td>0.13</td><td><bold>8.5 × 10</bold><sup><bold>−3</bold></sup></td></tr><tr><td>14q24.1</td><td>rs2588809</td><td>68660428</td><td></td><td>G</td><td>A</td><td>No</td><td>0.19</td><td>0.96 (0.91 to 1.01)</td><td>0.09</td><td>0.95 (0.89 to 1.01)</td><td>0.13</td><td>0.97 (0.86 to 1.09)</td><td>0.56</td><td>0.85</td><td>0.2</td><td>1.01 (0.94 to 1.09)</td><td>0.82</td><td>0.95 (0.80 to 1.13)</td><td>0.55</td><td>1.03 (0.94 to 1.12)</td><td>0.55</td><td>0.44</td></tr><tr><td>14q24.1</td><td>rs999737</td><td>69034682</td><td><italic>RAD51L1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.21</td><td>0.96 (0.91 to 1.01)</td><td>0.09</td><td>0.98 (0.92 to 1.04)</td><td>0.43</td><td>0.90 (0.80 to 1.01)</td><td>0.07</td><td>0.22</td><td>0.22</td><td>0.97 (0.91 to 1.05)</td><td>0.48</td><td>0.95 (0.81 to 1.11)</td><td>0.53</td><td>0.98 (0.91 to 1.06)</td><td>0.65</td><td>0.72</td></tr><tr><td>14q32.11</td><td>rs941764</td><td>91841069</td><td><italic>CCDC88C</italic></td><td>A</td><td>G</td><td>No</td><td>0.34</td><td>1.03 (0.98 to 1.07)</td><td>0.23</td><td>1.02 (0.97 to 1.07)</td><td>0.47</td><td>1.05 (0.95 to 1.17)</td><td>0.34</td><td>0.62</td><td>0.34</td><td>1.03 (0.97 to 1.09)</td><td>0.39</td><td>1.00 (0.88 to 1.14)</td><td>0.97</td><td>1.04 (0.97 to 1.11)</td><td>0.32</td><td>0.61</td></tr><tr><td>16q12.1a</td><td>rs3803662</td><td>52586341</td><td><italic>TOX3</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.29</td><td>1.06 (1.01 to 1.11)</td><td><bold>0.02</bold></td><td>1.01 (0.96 to 1.07)</td><td>0.65</td><td>1.22 (1.10 to 1.35)</td><td><bold>1.5 × 10</bold><sup><bold>−4</bold></sup></td><td><bold>2.39 × 10</bold><sup><bold>−3</bold></sup></td><td>0.29</td><td>1.24 (1.16 to 1.32)</td><td><bold>6.2 × 10</bold><sup><bold>−11</bold></sup></td><td>1.12 (0.97 to 1.30)</td><td>0.11</td><td>1.27 (1.18 to 1.36)</td><td><bold>1.5 × 10</bold><sup><bold>−10</bold></sup></td><td>0.15</td></tr><tr><td>16q12.1b</td><td>rs11075995</td><td>53855291</td><td><italic>FTO</italic></td><td>A</td><td>T</td><td>No</td><td>0.24</td><td>1.01 (0.96 to 1.06)</td><td>0.61</td><td>0.98 (0.93 to 1.04)</td><td>0.60</td><td>1.11 (0.99 to 1.24)</td><td>0.07</td><td>0.07</td><td>0.24</td><td>1.02(0.95 to 1.09)</td><td>0.59</td><td>1.01 (0.86 to 1.18)</td><td>0.94</td><td>1.02 (0.94 to 1.11)</td><td>0.57</td><td>0.85</td></tr><tr><td>16q12.1b</td><td>rs17817449</td><td>53813367</td><td><italic>FTO</italic></td><td>A</td><td>C</td><td>No</td><td>0.41</td><td>0.95 (0.91 to 0.99)</td><td><bold>0.02</bold></td><td>0.94 (0.89 to 0.98)</td><td><bold>9.8 × 10</bold><sup><bold>−3</bold></sup></td><td>1.00 (0.91 to 1.10)</td><td>0.99</td><td>0.26</td><td>0.41</td><td>0.94 (0.88 to 1.00)</td><td><bold>0.03</bold></td><td>1.05 (0.91 to 1.21)</td><td>0.49</td><td>0.91 (0.85 to 0.97)</td><td><bold>6.6 × 10</bold><sup><bold>−3</bold></sup></td><td>0.08</td></tr><tr><td>16q23.2</td><td>rs13329835</td><td>80650805</td><td><italic>CDYL2</italic></td><td>A</td><td>G</td><td>No</td><td>0.23</td><td>1.04 (0.99 to 1.09)</td><td>0.09</td><td>1.03 (0.97 to 1.09)</td><td>0.29</td><td>1.08 (0.97 to 1.21)</td><td>0.17</td><td>0.48</td><td>0.24</td><td>1.03 (0.96 to 1.11)</td><td>0.35</td><td>0.94 (0.81 to 1.10)</td><td>0.43</td><td>1.06 (0.98 to 1.15)</td><td>0.13</td><td>0.17</td></tr><tr><td>17q22</td><td>rs6504950</td><td>53056471</td><td><italic>COX11</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.27</td><td>0.98 (0.94 to 1.03)</td><td>0.49</td><td>0.99 (0.94 to 1.04)</td><td>0.70</td><td>0.96 (0.87 to 1.07)</td><td>0.49</td><td>0.68</td><td>0.27</td><td>1.04 (0.97 to 1.11)</td><td>0.24</td><td>1.08 (0.94 to 1.24)</td><td>0.27</td><td>1.03 (0.95 to 1.11)</td><td>0.46</td><td>0.54</td></tr><tr><td>18q11.2</td><td>rs527616</td><td>24337424</td><td><italic>AQP4</italic></td><td>C</td><td>G</td><td>No</td><td>0.37</td><td>0.99 (0.95 to 1.03)</td><td>0.61</td><td>0.97 (0.93 to 1.02)</td><td>0.30</td><td>1.04 (0.94 to 1.15)</td><td>0.42</td><td>0.26</td><td>0.37</td><td>0.96 (0.9 to 1.02)</td><td>0.19</td><td>0.95 (0.83 to 1.08)</td><td>0.41</td><td>0.96 (0.9 to 1.03)</td><td>0.30</td><td>0.82</td></tr><tr><td>18q11.2</td><td>rs1436904</td><td>22824665</td><td></td><td>A</td><td>C</td><td>No</td><td>0.39</td><td>0.99 (0.95 to 1.03)</td><td>0.68</td><td>1.00 (0.95 to 1.05)</td><td>0.86</td><td>0.98 (0.89 to 1.08)</td><td>0.63</td><td>0.74</td><td>0.39</td><td>0.96 (0.9 to 1.02)</td><td>0.14</td><td>1.02 (0.89 to 1.17)</td><td>0.79</td><td>0.94 (0.87 to 1.01)</td><td>0.07</td><td>0.30</td></tr><tr><td>19p13.11</td><td>rs8170</td><td>17389704</td><td><italic>BABAM1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.19</td><td>1.19 (1.12 to 1.25)</td><td><bold>2.9 × 10</bold><sup><bold>−10</bold></sup></td><td>1.22 (1.15 to 1.30)</td><td><bold>1.7 × 10</bold><sup><bold>−10</bold></sup></td><td>1.06 (0.95 to 1.20)</td><td>0.30</td><td>0.05</td><td>0.19</td><td>0.98 (0.91 to 1.06)</td><td>0.62</td><td>1.06 (0.90 to 1.25)</td><td>0.51</td><td>0.96 (0.88 to 1.05)</td><td>0.37</td><td>0.33</td></tr><tr><td>19p13.11</td><td>rs4808801</td><td>18571141</td><td><italic>ELL</italic></td><td>A</td><td>G</td><td>No</td><td>0.32</td><td>0.98 (0.94 to 1.02)</td><td>0.40</td><td>0.99 (0.94 to 1.05)</td><td>0.81</td><td>0.94 (0.85 to 1.04)</td><td>0.23</td><td>0.35</td><td>0.33</td><td>0.97 (0.91 to 1.03)</td><td>0.33</td><td>1.07 (0.93 to 1.23)</td><td>0.33</td><td>0.94 (0.87 to 1.01)</td><td>0.10</td><td>0.11</td></tr><tr><td>19q13.31</td><td>rs3760982</td><td>44286513</td><td><italic>KCNN4</italic></td><td>G</td><td>A</td><td>No</td><td>0.46</td><td>1.03 (0.99 to 1.08)</td><td>0.10</td><td>1.03 (0.98 to 1.08)</td><td>0.19</td><td>1.04 (0.95 to 1.14)</td><td>0.41</td><td>0.90</td><td>0.46</td><td>1.05 (0.99 to 1.12)</td><td>0.09</td><td>0.97 (0.86 to 1.11)</td><td>0.69</td><td>1.08 (1.01 to 1.15)</td><td><bold>0.03</bold></td><td>0.19</td></tr><tr><td>21q21.1</td><td>rs2823093</td><td>16520832</td><td><italic>NRIP1</italic></td><td>G</td><td>A</td><td>Yes</td><td>0.27</td><td>0.95 (0.91 to 1)</td><td><bold>0.04</bold></td><td>0.96 (0.91 to 1.02)</td><td>0.17</td><td>0.92 (0.82 to 1.02)</td><td>0.11</td><td>0.44</td><td>0.27</td><td>0.94 (0.88 to 1.01)</td><td>0.09</td><td>1.07 (0.92 to 1.25)</td><td>0.36</td><td>0.91 (0.84 to 0.98)</td><td><bold>0.02</bold></td><td>0.06</td></tr><tr><td>22q12.2</td><td>rs132390</td><td>29621477</td><td><italic>EMID1</italic></td><td>A</td><td>G</td><td>No</td><td>0.03</td><td>0.98 (0.87 to 1.1)</td><td>0.75</td><td>0.93 (0.81 to 1.07)</td><td>0.30</td><td>1.16 (0.91 to 1.46)</td><td>0.23</td><td>0.13</td><td>0.04</td><td>1.17 (1.00 to 1.37)</td><td>0.05</td><td>0.92 (0.61 to 1.39)</td><td>0.70</td><td>1.24 (1.04 to 1.49)</td><td><bold>0.02</bold></td><td>0.22</td></tr><tr><td>22q13.1</td><td>rs6001930</td><td>40876234</td><td><italic>SGSM3</italic></td><td>A</td><td>G</td><td>No</td><td>0.11</td><td>1.07 (1.00 to 1.14)</td><td><bold>0.03</bold></td><td>1.06 (0.98 to 1.15)</td><td>0.14</td><td>1.11 (0.96 to 1.30)</td><td>0.17</td><td>0.60</td><td>0.10</td><td>1.02 (0.92 to 1.12)</td><td>0.71</td><td>0.94 (0.76 to 1.18)</td><td>0.61</td><td>1.04 (0.93 to 1.16)</td><td>0.48</td><td>0.44</td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>CI, Confidence interval; ER, Estrogen receptor; HR, Hazard ratio; MAF, Mean allele frequency; SNP, Single-nucleotide polymorphism. Results represent <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers for 74 previously reported breast cancer (BC) susceptibility variants from population-based studies. <italic>P</italic>-values <0.05 are shown in bold. <sup>b</sup>Position in build 37. <sup>c</sup>Reference allele. <sup>c</sup>Effect allele. <sup>e</sup>Association in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers has been reported before. <sup>f</sup><italic>P</italic>-value for the difference between the association with ER-positive BC and the association with ER-negative BC.</p></table-wrap-foot></table-wrap></p><p>When association analyses for ER-positive and -negative disease were repeated after excluding prevalent breast cancer cases (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S3), the HR estimates were consistent with the estimates from the complete sample but were associated with larger confidence intervals. Therefore, it is unlikely that our results are influenced by survival bias.</p></sec><sec id="Sec12"><title>Associations with other subtypes and clinical features</title><p>The pattern of associations of previously reported breast cancer susceptibility variants by PR and TN status were very similar to that by ER status (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Tables S4 and S6), but fewer associations were observed at <italic>P</italic> <0.01. SNP rs720475 at 7q35 was the only variant that was associated with HER2-positive disease (HR = 1.45 and <italic>P</italic> = 0.003 for HER2-positive, <italic>P</italic><sub>het</sub> = 9 × 10<sup>−4</sup> in <italic>BRCA2</italic> carriers) (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S5).</p><p>For <italic>BRCA1</italic> carriers, there were significant differences (<italic>P</italic><sub>het</sub> <0.01) in the HR for high grade (grade 3) and grades 1 and 2 breast cancer for SNPs at 10q26.12 (<italic>FGFR2</italic>) and at 12q24.21 (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S9). SNP rs3803662 in <italic>TOX3</italic> at 16q12.1 was associated exclusively with node-positive breast cancer (<italic>P</italic> = 2 × 10<sup>−4</sup>, <italic>P</italic><sub>het</sub> = 0.005) (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S10). This was also the only variant associated with lobular cancer, as shown in Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Table S8 (<italic>P</italic> = 8 × 10<sup>−6</sup> for <italic>BRCA2</italic> carriers). The HR for lobular cancer was larger than that for non-lobular cancer (lobular HR = 1.57, 95% CI: 1.29 to 1.92; non-lobular HR = 1.20, 95% CI: 1.13 to 1.28 for <italic>BRCA2</italic> carriers; <italic>P</italic><sub>het</sub> = 9 × 10<sup>−4</sup>). There was no evidence for differences in associations by histological grade and nodal involvement for <italic>BRCA2</italic> carriers.</p></sec><sec id="Sec13"><title>Comparison of patterns of associations by breast cancer estrogen receptor status between BRCA1 and BRCA2 carriers and the general population</title><p>We compared the log HR estimates for the breast cancer association of known breast cancer susceptibility variants for <italic>BRCA1</italic> carriers, <italic>BRCA2</italic> carriers, and for the general population using published data from the Breast Cancer Association Consortium (BCAC) [<xref ref-type="bibr" rid="CR8">8</xref>]. The resulting ICC coefficients for log HR/OR estimates for all comparisons are shown in Table <xref rid="Tab3" ref-type="table">3</xref>. Log HR estimates for overall breast cancer risk in <italic>BRCA2</italic> carriers were very similar to the log odds ratios (ORs) from the general population (ICC = 0.63, 95% CI: 0.47 to 0.75) (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figure S3B), whereas there was only moderate correlation between the log HR estimates for <italic>BRCA1</italic> carriers and the log HR estimates from both other groups (ICC: <italic>BRCA1</italic>-BCAC estimates = 0.43, <italic>BRCA1</italic>-<italic>BRCA2</italic> = 0.46) (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figure S3A,C). When comparing ER-positive specific associations, we found stronger agreement between the log HR/OR estimates than for overall breast cancer. The ICC estimates ranged from 0.61 (95% CI: 0.45 to 0.74) (Figure <xref rid="Fig1" ref-type="fig">1</xref>B) for BCAC-<italic>BRCA1</italic> to 0.69 (95% CI: 0.55 to 0.79) (Figure <xref rid="Fig1" ref-type="fig">1</xref>C) for BCAC-<italic>BRCA2</italic>. The ER-negative breast cancer log HR estimates in <italic>BRCA1</italic> carriers and the corresponding BCAC estimates were strongly correlated (ICC = 0.59, 95% CI: 0.42 to 0.72) (Figure <xref rid="Fig1" ref-type="fig">1</xref>E). However, the ER-negative breast cancer log HR estimates in <italic>BRCA2</italic> carriers were less strongly correlated with the corresponding estimates in <italic>BRCA1</italic> carriers (ICC = 0.46, 95% CI: 0.25 to 0.62) (Figure <xref rid="Fig1" ref-type="fig">1</xref>D) and in BCAC (ICC = 0.28, 95% CI: 0.05 to 0.48) (Figure <xref rid="Fig1" ref-type="fig">1</xref>F). There was no evidence that the ICC was different from 0 for the comparison between ER-positive associations in <italic>BRCA1</italic> carriers with ER-negative associations in <italic>BRCA2</italic> carriers and vice versa (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figure S4B,C). Similarly, there was no significant correlation between log OR estimates for ER-positive breast cancer in BCAC with log HR estimates for ER-negative breast cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figures S5B and S6B). There was only moderate correlation between log OR estimates for ER-negative breast cancer in the general population and log HR estimates for ER-positive breast cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers (ICC = 0.39 and ICC = 0.34, respectively) (Additional file <xref rid="MOESM1" ref-type="media">1</xref>: Figures S5C and S6C).<table-wrap id="Tab3"><label>Table 3</label><caption><p><bold>Comparisons between the associations of 74 breast cancer susceptibility loci in</bold><bold><italic>BRCA1</italic></bold><bold>carriers, in</bold><bold><italic>BRCA2</italic></bold><bold>carriers, and in population-based studies</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th></th><th colspan="3"><bold><italic>BRCA1</italic></bold> carriers</th><th colspan="3"><bold><italic>BRCA2</italic></bold> carriers</th></tr><tr><th></th><th></th><th>Overall</th><th>ER-positive</th><th>ER-negative</th><th>Overall</th><th>ER-positive</th><th>ER-negative</th></tr></thead><tbody><tr><td rowspan="3"><italic>BRCA2</italic> carriers</td><td>Overall</td><td>0.46 (0.25 to 0.62)</td><td></td><td></td><td></td><td></td><td></td></tr><tr><td>ER-positive</td><td></td><td>0.67 (0.52 to 0.78)</td><td>0.13 (−0.10 to 0.35)</td><td></td><td></td><td></td></tr><tr><td>ER-negative</td><td></td><td>0.10 (−0.13 to 0.33)</td><td>0.46 (0.25 to 0.62)</td><td></td><td></td><td></td></tr><tr><td rowspan="3">BCAC</td><td>Overall</td><td>0.43 (0.22 to 0.60)</td><td></td><td></td><td>0.63 (0.47 to 0.75)</td><td></td><td></td></tr><tr><td>ER-positive</td><td></td><td>0.61 (0.45 to 0.74)</td><td>0.16 (−0.07 to 0.38)</td><td></td><td>0.69 (0.55 to 0.79)</td><td>0.13 (−0.11 to 0.35)</td></tr><tr><td>ER-negative</td><td></td><td>0.34 (0.12 to 0.53)</td><td>0.59 (0.42 to 0.72)</td><td></td><td>0.39 (0.17 to 0.57)</td><td>0.28 (0.05 to 0.48)</td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>ER, Estrogen receptor. Data are intraclass correlation coefficients and 95% confidence intervals, which describe associations with overall breast cancer as well as by ER status. Data are derived from published studies by the Breast Cancer Association Consortium (BCAC).</p></table-wrap-foot></table-wrap><fig id="Fig1"><label>Figure 1</label><caption><p><bold>Estrogen receptor-positive and -negative log hazard ratio estimates in the general population and in</bold><bold><italic>BRCA1</italic></bold><bold>and</bold><bold><italic>BRCA2</italic></bold><bold>carriers.</bold> Dots represent the association of 74 previously reported breast cancer susceptibility single-nucleotide polymorphisms with estrogen receptor (ER)-positive breast cancer <bold>(A–C)</bold> and ER-negative breast cancer <bold>(D–F)</bold>. <bold>(A)</bold> and <bold>(D)</bold> compare associations between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers, <bold>(B)</bold> and <bold>(E)</bold> between the general population and <italic>BRCA1</italic> carriers and <bold>(C)</bold> and <bold>(F)</bold> between the general population and <italic>BRCA2</italic> carriers. Association results for the general population were taken from reports published by the Breast Cancer Association Consortium (BCAC) [<xref ref-type="bibr" rid="CR8">8</xref>]-[<xref ref-type="bibr" rid="CR10">10</xref>],[<xref ref-type="bibr" rid="CR16">16</xref>].</p></caption><graphic xlink:href="13058_2014_492_Fig1_HTML" id="d29e12097"></graphic></fig></p></sec></sec><sec id="Sec14"><title>Associations by subtype with all single-nucleotide polymorphisms on iCOGS</title><p>Variants in or near the known breast cancer susceptibility loci <italic>TERT</italic>, <italic>ESR1</italic> and 19p13.11 showed strong associations (<italic>P</italic> <10<sup>−6</sup>) with at least one of the categories in all subtype analyses in <italic>BRCA1</italic> carriers. The same was true for SNPs in <italic>FGFR2</italic> and <italic>TOX3</italic> in <italic>BRCA2</italic> carriers.</p><p>Variants on the iCOGS array that exhibited associations at <italic>P</italic> <10<sup>−6</sup> with any of the breast cancer subtypes of ER-, PR-, HER2-positive or -negative and TN breast tumors are shown in Table <xref rid="Tab4" ref-type="table">4</xref>. All the variants associated with ER-positive or ER-negative breast cancer at <italic>P</italic> <10<sup>−6</sup> were located within known breast cancer susceptibility loci. Similar associations were observed with PR-positive and PR-negative breast cancer for <italic>BRCA1</italic> carriers. A previously unreported SNP at 2p13.2 was associated with HER2-positive breast cancer in <italic>BRCA1</italic> carriers. In <italic>BRCA2</italic> carriers, two previously unreported variants showed evidence of association in the analysis by PR status. Furthermore, SNPs at 8q12.1 near <italic>TOX</italic> were associated with HER2-positive cancer in <italic>BRCA2</italic> carriers. Only SNPs in the known breast cancer susceptibility loci <italic>FGFR2</italic> and <italic>TOX3</italic> were associated with non-TN breast cancer in <italic>BRCA2</italic> carriers, and none were associated with TN breast cancer at <italic>P</italic> <10<sup>−6</sup>.<table-wrap id="Tab4"><label>Table 4</label><caption><p><bold>Associations with tumor subtypes</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th colspan="3">Affected by subtype, <bold><italic>n</italic></bold> (MAF)</th><th></th><th>Positive</th><th></th><th>Negative</th><th></th><th></th></tr><tr><th>Subtype</th><th>Sample</th><th>SNP</th><th>Locus</th><th>Position <sup>b</sup></th><th>Nearby gene</th><th>Ref <sup>c</sup></th><th>Eff <sup>d</sup></th><th>Reported <sup>e</sup></th><th>Positive</th><th>Negative</th><th>Unknown</th><th>Number unaffected (MAF)</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th><bold><italic>P</italic></bold><sub>het</sub>-value <sup>f</sup></th></tr></thead><tbody><tr><td>ER status</td><td><italic>BRCA1</italic> carriers</td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>819 (0.27)</td><td>2,635 (0.3)</td><td>4,331 (0.3)</td><td>7,449 (0.26)</td><td>1.09 (0.98 to 1.22)</td><td char="." align="char">0.09</td><td>1.24 (1.18 to 1.31)</td><td>2.7 × 10<sup>−15</sup></td><td>0.04</td></tr><tr><td></td><td></td><td>rs2046210</td><td>6q25.1</td><td char="." align="char">151990059</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>819 (0.36)</td><td>2,639 (0.39)</td><td>4,338 (0.38)</td><td>7,453 (0.35)</td><td>1.04 (0.94 to 1.15)</td><td char="." align="char">0.42</td><td>1.2 (1.15 to 1.26)</td><td>2.8 × 10<sup>−13</sup></td><td>0.01</td></tr><tr><td></td><td></td><td>rs2811708</td><td char="." align="char">9p21</td><td char="." align="char">21963422</td><td><italic>CDKN2A/B</italic></td><td>C</td><td>A</td><td>Yes</td><td>816 (0.24)</td><td>2,634 (0.31)</td><td>4,336 (0.28)</td><td>7,445 (0.28)</td><td>0.82 (0.73 to 0.91)</td><td>2.9 × 10<sup>−4</sup></td><td>1.13 (1.07 to 1.19)</td><td>7.3 × 10<sup>−6</sup></td><td>3.9 × 10<sup>−7</sup></td></tr><tr><td></td><td></td><td>rs45631579</td><td char="." align="char">10q26</td><td char="." align="char">123328965</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>819 (0.48)</td><td>2,639 (0.4)</td><td>4,337 (0.42)</td><td>7,455 (0.41)</td><td>1.29 (1.17 to 1.43)</td><td>2.6 × 10<sup>−7</sup></td><td>0.92 (0.87 to 0.96)</td><td>4.7 × 10<sup>−4</sup></td><td>5.1 × 10<sup>−9</sup></td></tr><tr><td></td><td></td><td>rs2590275</td><td char="." align="char">12p12</td><td char="." align="char">28057334</td><td><italic>PTHLH</italic></td><td>G</td><td>C</td><td>Yes</td><td>819 (0.26)</td><td>2,639 (0.25)</td><td>4,338 (0.26)</td><td>7,454 (0.28)</td><td>0.92 (0.83 to 1.03)</td><td char="." align="char">0.14</td><td>0.87 (0.82 to 0.92)</td><td>5.3 × 10<sup>−7</sup></td><td>0.34</td></tr><tr><td></td><td></td><td>rs2363956</td><td>19p13.11</td><td char="." align="char">17255124</td><td><italic>ANKLE1</italic></td><td>C</td><td>A</td><td>Yes</td><td>819 (0.47)</td><td>2,635 (0.53)</td><td>4,334 (0.52)</td><td>7,447 (0.48)</td><td>0.98 (0.89 to 1.08)</td><td char="." align="char">0.71</td><td>1.25 (1.19 to 1.31)</td><td>6.4 × 10<sup>−20</sup></td><td>1.6 × 10<sup>−5</sup></td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs2162540</td><td char="." align="char">10q26</td><td char="." align="char">123342126</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>1450 (0.47)</td><td>426 (0.41)</td><td>2,348 (0.44)</td><td>3,783 (0.38)</td><td>1.34 (1.25 to 1.43)</td><td>3.6 × 10<sup>−16</sup></td><td>1.08 (0.94 to 1.23)</td><td char="." align="char">0.27</td><td>6.1 × 10<sup>−3</sup></td></tr><tr><td></td><td></td><td>rs17271951</td><td>16q12.1</td><td char="." align="char">51095541</td><td><italic>TOX3</italic></td><td>A</td><td>G</td><td>Yes</td><td>1490 (0.32)</td><td>434 (0.28)</td><td>2,397 (0.3)</td><td>3,879 (0.25)</td><td>1.29 (1.2 to 1.39)</td><td>8.4 × 10<sup>−12</sup></td><td>1.14 (0.99 to 1.31)</td><td char="." align="char">0.08</td><td>0.14</td></tr><tr><td>PR status</td><td><italic>BRCA1</italic> carriers</td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>662 (0.27)</td><td>2,481 (0.29)</td><td>4,642 (0.3)</td><td>7,449 (0.26)</td><td>1.10 (0.98 to 1.24)</td><td char="." align="char">0.09</td><td>1.24 (1.17 to 1.3)</td><td>1.3 × 10<sup>−14</sup></td><td>0.11</td></tr><tr><td></td><td></td><td>rs2046210</td><td>6q25.1</td><td char="." align="char">151990059</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>662 (0.37)</td><td>2,485 (0.39)</td><td>4,649 (0.38)</td><td>7,453 (0.35)</td><td>1.09 (0.98 to 1.21)</td><td char="." align="char">0.12</td><td>1.18 (1.13 to 1.24)</td><td>2.0 × 10<sup>−11</sup></td><td>0.19</td></tr><tr><td></td><td></td><td>rs45631626</td><td char="." align="char">10q26</td><td char="." align="char">123327325</td><td><italic>FGFR2</italic></td><td>G</td><td>A</td><td>Yes</td><td>662 (0.49)</td><td>2,485 (0.4)</td><td>4,647 (0.42)</td><td>7,455 (0.42)</td><td>1.33 (1.2 to 1.48)</td><td>1.3 × 10<sup>−7</sup></td><td>0.92 (0.88 to 0.97)</td><td>9.6 × 10<sup>−4</sup></td><td>5.3 × 10<sup>−9</sup></td></tr><tr><td></td><td></td><td>rs2590275</td><td char="." align="char">12p12</td><td char="." align="char">28057334</td><td><italic>PTHLH</italic></td><td>G</td><td>C</td><td>Yes</td><td>662 (0.26)</td><td>2,485 (0.25)</td><td>4,649 (0.26)</td><td>7,454 (0.28)</td><td>0.92 (0.82 to 1.03)</td><td char="." align="char">0.16</td><td>0.87 (0.82 to 0.92)</td><td>8.2 × 10<sup>−7</sup></td><td>0.45</td></tr><tr><td></td><td></td><td>rs8100241</td><td>19p13.11</td><td char="." align="char">17253894</td><td><italic>ANKLE1</italic></td><td>G</td><td>A</td><td>Yes</td><td>657 (0.51)</td><td>2,473 (0.47)</td><td>4,628 (0.48)</td><td>7,420 (0.52)</td><td>0.98 (0.88 to 1.09)</td><td char="." align="char">0.71</td><td>0.81 (0.78 to 0.85)</td><td>1.8 × 10<sup>−17</sup></td><td>2.4 × 10<sup>−3</sup></td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs10017576</td><td>4q28.3</td><td char="." align="char">139799629</td><td></td><td>G</td><td>A</td><td>No</td><td>1099 (0.38)</td><td>591 (0.43)</td><td>2,639 (0.41)</td><td>3,880 (0.43)</td><td>0.83 (0.77 to 0.89)</td><td>8.9 × 10<sup>−7</sup></td><td>1.02 (0.92 to 1.14)</td><td char="." align="char">0.67</td><td>2.7 × 10<sup>−3</sup></td></tr><tr><td></td><td></td><td>rs4376461</td><td char="." align="char">8p12</td><td char="." align="char">32822117</td><td><italic>NRG1</italic></td><td>C</td><td>A</td><td>No</td><td>1099 (0.15)</td><td>591 (0.10)</td><td>2,640 (0.14)</td><td>3,881 (0.15)</td><td>1.00 (0.9 to 1.12)</td><td char="." align="char">0.93</td><td>0.6 (0.5 to 0.73)</td><td>2.4 × 10<sup>−7</sup></td><td>1.4 × 10<sup>−5</sup></td></tr><tr><td></td><td></td><td>rs45631588</td><td char="." align="char">10q26</td><td char="." align="char">123341292</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>1099 (0.47)</td><td>591 (0.43)</td><td>2,640 (0.45)</td><td>3,881 (0.39)</td><td>1.33 (1.23 to 1.44)</td><td>2.7 × 10<sup>−13</sup></td><td>1.15 (1.03 to 1.28)</td><td char="." align="char">0.01</td><td>0.04</td></tr><tr><td></td><td></td><td>rs17271951</td><td>16q12.1</td><td char="." align="char">51095541</td><td><italic>TOX3</italic></td><td>A</td><td>G</td><td>Yes</td><td>1099 (0.32)</td><td>591 (0.28)</td><td>2,631 (0.3)</td><td>3,879 (0.25)</td><td>1.32 (1.21 to 1.43)</td><td>4.3 × 10<sup>−11</sup></td><td>1.14 (1.01 to 1.29)</td><td char="." align="char">0.03</td><td>0.07</td></tr><tr><td>HER2 status</td><td><italic>BRCA1</italic> carriers</td><td>rs17008885</td><td>2p13.2</td><td char="." align="char">73303647</td><td><italic>SMYD5</italic></td><td>T</td><td>A</td><td>No</td><td>182 (0.19)</td><td>1,816 (0.3)</td><td>5,799 (0.3)</td><td>7,455 (0.31)</td><td>0.54 (0.43 to 0.69)</td><td>7.8 × 10<sup>−7</sup></td><td>0.99 (0.95 to 1.04)</td><td char="." align="char">0.78</td><td>3.8 × 10<sup>−6</sup></td></tr><tr><td></td><td></td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>181 (0.23)</td><td>1,813 (0.29)</td><td>5,791 (0.3)</td><td>7,449 (0.26)</td><td>0.9 (0.71 to 1.13)</td><td char="." align="char">0.36</td><td>1.24 (1.18 to 1.3)</td><td>3.4 × 10<sup>−17</sup></td><td>0.01</td></tr><tr><td></td><td></td><td>rs2046210</td><td>6q25.1</td><td char="." align="char">151990059</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>182 (0.39)</td><td>1,816 (0.4)</td><td>5,798 (0.38)</td><td>7,453 (0.35)</td><td>1.12 (0.91 to 1.38)</td><td char="." align="char">0.29</td><td>1.17 (1.11 to 1.22)</td><td>1.5 × 10<sup>−10</sup></td><td>0.71</td></tr><tr><td></td><td></td><td>rs10843055</td><td char="." align="char">12p12</td><td char="." align="char">28063088</td><td><italic>PTHLH</italic></td><td>A</td><td>C</td><td>Yes</td><td>171 (0.06)</td><td>1,743 (0.06)</td><td>5,615 (0.06)</td><td>7,234 (0.07)</td><td>0.79 (0.52 to 1.2)</td><td char="." align="char">0.26</td><td>0.79 (0.72 to 0.87)</td><td>6.2 × 10<sup>−7</sup></td><td>0.99</td></tr><tr><td></td><td></td><td>rs4808616</td><td>19p13.11</td><td char="." align="char">17264033</td><td><italic>ANKLE1</italic></td><td>C</td><td>A</td><td>Yes</td><td>176 (0.35)</td><td>1,782 (0.32)</td><td>5,706 (0.32)</td><td>7,339 (0.28)</td><td>1.37 (1.11 to 1.69)</td><td>3.8 × 10<sup>−3</sup></td><td>1.2 (1.14 to 1.26)</td><td>6.8 × 10<sup>−13</sup></td><td>0.25</td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs4305889</td><td>8q12.1</td><td char="." align="char">60352785</td><td><italic>TOX</italic></td><td>A</td><td>G</td><td>No</td><td>121 (0.18)</td><td>845 (0.09)</td><td>3,353 (0.11)</td><td>3,874 (0.1)</td><td>2.04 (1.53 to 2.71)</td><td>8.7 × 10<sup>−7</sup></td><td>0.96 (0.85 to 1.08)</td><td char="." align="char">0.47</td><td>1.0 × 10<sup>−5</sup></td></tr><tr><td></td><td></td><td>rs45631588</td><td char="." align="char">10q26</td><td char="." align="char">123341292</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>121 (0.45)</td><td>847 (0.46)</td><td>3,362 (0.45)</td><td>3,881 (0.39)</td><td>1.27 (0.98 to 1.63)</td><td char="." align="char">0.07</td><td>1.28 (1.19 to 1.37)</td><td>2.1 × 10<sup>−12</sup></td><td>0.95</td></tr><tr><td></td><td></td><td>rs3817197</td><td>11p15.5</td><td char="." align="char">1862750</td><td><italic>LSP1</italic></td><td>G</td><td>A</td><td>Yes</td><td>121 (0.55)</td><td>847 (0.44)</td><td>3,353 (0.45)</td><td>3,877 (0.47)</td><td>1.30 (1.02 to 1.64)</td><td char="." align="char">0.03</td><td>0.84 (0.79 to 0.9)</td><td>9.1 × 10<sup>−7</sup></td><td>1.3 × 10<sup>−3</sup></td></tr><tr><td></td><td></td><td>rs17271951</td><td>16q12.1</td><td char="." align="char">51095541</td><td><italic>TOX3</italic></td><td>A</td><td>G</td><td>Yes</td><td>121 (0.29)</td><td>847 (0.31)</td><td>3,353 (0.3)</td><td>3,879 (0.25)</td><td>1.10 (0.85 to 1.41)</td><td char="." align="char">0.47</td><td>1.27 (1.18 to 1.37)</td><td>6.9 × 10<sup>−11</sup></td><td>0.3</td></tr><tr><td>Triple-negative<sup>g</sup></td><td><italic>BRCA1</italic> carriers</td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>579 (0.27)</td><td>1,307 (0.3)</td><td>5,899 (0.3)</td><td>7,449 (0.26)</td><td>1.06 (0.94 to 1.19)</td><td char="." align="char">0.34</td><td>1.27 (1.2 to 1.36)</td><td>5.2 × 10<sup>−14</sup></td><td>0.02</td></tr><tr><td></td><td></td><td>rs2046210</td><td>6q25.1</td><td char="." align="char">151990059</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>580 (0.37)</td><td>1,310 (0.41)</td><td>5,906 (0.38)</td><td>7,453 (0.35)</td><td>1.01 (0.91 to 1.13)</td><td char="." align="char">0.79</td><td>1.23 (1.16 to 1.31)</td><td>5.5 × 10<sup>−12</sup></td><td>6.8 × 10<sup>−3</sup></td></tr><tr><td></td><td></td><td>rs9512729</td><td>13q12.2</td><td char="." align="char">26974865</td><td><italic>LNX2</italic></td><td>G</td><td>A</td><td>No</td><td>580 (0.34)</td><td>1,309 (0.43)</td><td>5,902 (0.41)</td><td>7,454 (0.41)</td><td>0.76 (0.69 to 0.85)</td><td>9.1 × 10<sup>−7</sup></td><td>1.08 (1.02 to 1.15)</td><td char="." align="char">0.01</td><td>1.2 × 10<sup>−6</sup></td></tr><tr><td></td><td></td><td>rs8100241</td><td>19p13.11</td><td char="." align="char">17253894</td><td><italic>ANKLE1</italic></td><td>G</td><td>A</td><td>Yes</td><td>577 (0.5)</td><td>1,304 (0.46)</td><td>5,877 (0.48)</td><td>7,420 (0.52)</td><td>0.94 (0.85 to 1.04)</td><td char="." align="char">0.22</td><td>0.81 (0.76 to 0.86)</td><td>2.4 × 10<sup>−13</sup></td><td>0.03</td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs2162540</td><td char="." align="char">10q26</td><td char="." align="char">123342126</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>735 (0.46)</td><td>133 (0.36)</td><td>3,356 (0.44)</td><td>3,783 (0.38)</td><td>1.39 (1.29 to 1.49)</td><td>9.8 × 10<sup>−20</sup></td><td>0.83 (0.67 to 1.03)</td><td char="." align="char">0.10</td><td>4.0 × 10<sup>−5</sup></td></tr><tr><td></td><td></td><td>rs1362548</td><td>16q12.1</td><td char="." align="char">51121452</td><td><italic>TOX3</italic></td><td>C</td><td>G</td><td>Yes</td><td>760 (0.32)</td><td>136 (0.29)</td><td>3,434 (0.31)</td><td>3,881 (0.26)</td><td>1.26 (1.17 to 1.36)</td><td>1.0 × 10<sup>−9</sup></td><td>1.18 (0.94 to 1.49)</td><td char="." align="char">0.16</td><td>0.63</td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>CI, Confidence interval; HR, Hazard ratio; MAF, Mean allele frequency. Single-nucleotide polymorphisms (SNPs) associated at <italic>P</italic> <10<sup>−6</sup> with breast cancer by tumor estrogen receptor (ER) status, progesterone receptor (PR) status, human epidermal growth factor receptor 2 (HER2) status or triple-negative (negative for ER, PR and HER2) are shown. The most strongly associated SNP from each locus is reported. <sup>b</sup>Position in build 36. <sup>c</sup>Reference allele. <sup>d</sup>Effect allele. <sup>e</sup>Variant located in previously reported breast cancer susceptibility locus. <sup>f</sup><italic>P</italic>-value for the difference in association between subtype positive and subtype negative breast cancer (for example, ER-positive vs ER-negative). <sup>g</sup>Non–triple negative was considered as “positive” and triple-negative as “negative.”</p></table-wrap-foot></table-wrap></p><p>A SNP at 7q36 was associated with ductal subtype for <italic>BRCA1</italic> carriers (Table <xref rid="Tab5" ref-type="table">5</xref>). Two loci were associated with lobular breast cancer for <italic>BRCA2</italic> carriers: 11q23.3 and Xp11.23.<table-wrap id="Tab5"><label>Table 5</label><caption><p><bold>Associations with ductal and lobular breast cancer</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th colspan="3">N tumors with morphology (MAF)</th><th></th><th colspan="2">Other morphology</th><th colspan="2">Tumors with morphology</th><th></th></tr><tr><th>Subtype</th><th>Sample</th><th>SNP</th><th>Locus</th><th>Position <sup>b</sup></th><th>Nearby gene</th><th>Ref <sup>c</sup></th><th>Eff <sup>d</sup></th><th>Reported <sup>e</sup></th><th>Present</th><th>Other</th><th>Unknown</th><th>Number unaffected (MAF)</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th><bold><italic>P</italic></bold><sub>het</sub>-value <sup>f</sup></th></tr></thead><tbody><tr><td>Ductal</td><td><italic>BRCA1</italic> carriers</td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>3,155 (0.29)</td><td>847 (0.30)</td><td>3,783 (0.30)</td><td>7,449 (0.26)</td><td>1.23 (1.11 to 1.36)</td><td>7.3 × 10<sup>−5</sup></td><td>1.20 (1.14 to 1.26)</td><td>2.0 × 10<sup>−11</sup></td><td>0.67</td></tr><tr><td></td><td></td><td>rs11155803</td><td>6q25.1</td><td char="." align="char">151987362</td><td><italic>C6orf97</italic></td><td>A</td><td>G</td><td>Yes</td><td>3,159 (0.36)</td><td>848 (0.35)</td><td>3,786 (0.36)</td><td>7,452 (0.32)</td><td>1.13 (1.03 to 1.25)</td><td>0.01</td><td>1.17 (1.11 to 1.23)</td><td>4.6 × 10<sup>−10</sup></td><td>0.58</td></tr><tr><td></td><td></td><td>rs10252939</td><td char="." align="char">7q36</td><td char="." align="char">155587448</td><td></td><td>A</td><td>G</td><td>No</td><td>3,159 (0.28)</td><td>849 (0.33)</td><td>3,789 (0.29)</td><td>7,455 (0.32)</td><td>1.08 (0.98 to 1.19)</td><td>0.14</td><td>0.87 (0.82 to 0.91)</td><td>1.0 × 10<sup>−7</sup></td><td>2.7 × 10<sup>−4</sup></td></tr><tr><td></td><td></td><td>rs8100241</td><td>19p13.11</td><td char="." align="char">17253894</td><td><italic>ANKLE1</italic></td><td>G</td><td>A</td><td>Yes</td><td>3,137 (0.48)</td><td>844 (0.49)</td><td>3,777 (0.47)</td><td>7,420 (0.52)</td><td>0.87 (0.79 to 0.95)</td><td>2.8 × 10<sup>−3</sup></td><td>0.84 (0.8 to 0.88)</td><td>1.5 × 10<sup>−13</sup></td><td>0.51</td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs2162540</td><td char="." align="char">10q26</td><td char="." align="char">123342126</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>1,728 (0.45)</td><td>458 (0.44)</td><td>2,038 (0.44)</td><td>3,783 (0.38)</td><td>1.24 (1.08 to 1.42)</td><td>1.8 × 10<sup>−3</sup></td><td>1.30 (1.21 to 1.39)</td><td>3.1 × 10<sup>−14</sup></td><td>0.55</td></tr><tr><td></td><td></td><td>rs1362548</td><td>16q12.1</td><td char="." align="char">51121452</td><td><italic>TOX3</italic></td><td>C</td><td>G</td><td>Yes</td><td>1,770 (0.3)</td><td>473 (0.32)</td><td>2,087 (0.31)</td><td>3,881 (0.26)</td><td>1.32 (1.15 to 1.51)</td><td>4.8 × 10<sup>−5</sup></td><td>1.23 (1.15 to 1.32)</td><td>7.3 × 10<sup>−9</sup></td><td>0.36</td></tr><tr><td>Lobular</td><td><italic>BRCA2</italic> carriers</td><td>rs2186703</td><td>11q23.3</td><td char="." align="char">115265717</td><td><italic>RPL15P15</italic></td><td>A</td><td>C</td><td>No</td><td>188 (0.07)</td><td>2,055 (0.03)</td><td>2,087 (0.04)</td><td>3,881 (0.03)</td><td>1.09 (0.93 to 1.27)</td><td>0.29</td><td>2.54 (1.78 to 3.62)</td><td>2.8 × 10<sup>−7</sup></td><td>1.5 × 10<sup>−5</sup></td></tr><tr><td></td><td></td><td>rs55998524</td><td>Xp11.23</td><td char="." align="char">51082075</td><td><italic>NUDT10</italic></td><td>C</td><td>G</td><td>No</td><td>188 (0.11)</td><td>2,054 (0.05)</td><td>2,086 (0.06)</td><td>3,880 (0.05)</td><td>0.96 (0.83 to 1.1)</td><td>0.54</td><td>2.42 (1.77 to 3.32)</td><td>3.6 × 10<sup>−8</sup></td><td>7.0 × 10<sup>−8</sup></td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>CI, Confidence interval; HR, Hazard ratio; MAF, Mean allele frequency. Single-nucleotide polymorphisms (SNPs) associated at <italic>P</italic> <10<sup>−6</sup> with ductal carcinomas and, for <italic>BRCA2</italic> mutation carriers, lobular carcinomas are shown. The most strongly associated SNP from each locus is reported. <sup>b</sup>Position in build 36. <sup>c</sup>Reference allele. <sup>d</sup>Effect allele. <sup>e</sup>Variant located in previously reported breast cancer susceptibility locus. <sup>f</sup><italic>P</italic>-value for the difference in SNP association between ductal breast tumors and non-ductal breast tumors and for lobular breast tumors and non-lobular breast tumors.</p></table-wrap-foot></table-wrap></p><p>There was one novel association with high-grade tumors in <italic>BRCA1</italic> carriers (Table <xref rid="Tab6" ref-type="table">6</xref>). Three previously unreported variants were associated with breast cancer nodal status in <italic>BRCA1</italic> carriers: SNPs at 4q24 in the <italic>TET2</italic> gene, at 5q32 in the <italic>SH3RF2</italic> gene and at 7p22 in an intron of <italic>NXPH1</italic>. For <italic>BRCA2</italic> carriers, only SNPs in <italic>FGFR2</italic> and <italic>TOX3</italic> exhibited associations at <italic>P</italic> <10<sup>−6</sup> with breast cancer nodal status or histological grade.<table-wrap id="Tab6"><label>Table 6</label><caption><p><bold>Associations with grade and lymph node status</bold><sup><bold>a</bold></sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th></th><th colspan="3">Affected by subtype, <bold><italic>n</italic></bold> (MAF)</th><th></th><th colspan="2">Low-grade/no nodal involvement</th><th colspan="2">High grade/nodal involvement</th><th></th></tr><tr><th>Subtype</th><th>Sample</th><th>SNP</th><th>Locus</th><th>Position <sup>b</sup></th><th>Nearby gene</th><th>Ref <sup>c</sup></th><th>Eff <sup>d</sup></th><th>Reported <sup>e</sup></th><th>High-grade/node-positive</th><th>Low-grade/node-negative</th><th>Unknown</th><th>Number unaffected (MAF)</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th>HR (95% CI)</th><th><bold><italic>P</italic></bold> -value</th><th><bold><italic>P</italic></bold><sub>het</sub>-value <sup>f</sup></th></tr></thead><tbody><tr><td>Grade 3</td><td><italic>BRCA1</italic> carriers</td><td>rs17651413</td><td>2q33.1</td><td char="." align="char">202677054</td><td><italic>KIAA2012</italic></td><td>A</td><td>G</td><td>No</td><td>2,495 (0.12)</td><td>655 (0.11)</td><td>4,644 (0.13)</td><td>7,454 (0.11)</td><td>1.01 (0.86 to 1.2)</td><td>0.86</td><td>1.20 (1.12 to 1.29)</td><td>8.4 × 10<sup>−7</sup></td><td>0.08</td></tr><tr><td></td><td></td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>2,493 (0.3)</td><td>654 (0.29)</td><td>4,638 (0.3)</td><td>7,449 (0.26)</td><td>1.15 (1.02 to 1.29)</td><td>0.02</td><td>1.22 (1.16 to 1.29)</td><td>2.4 × 10<sup>−13</sup></td><td>0.39</td></tr><tr><td></td><td></td><td>c6_pos151989450</td><td>6q25.1</td><td char="." align="char">151989450</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>2,497 (0.11)</td><td>655 (0.08)</td><td>4,645 (0.1)</td><td>7,455 (0.08)</td><td>1.01 (0.83 to 1.24)</td><td>0.91</td><td>1.31 (1.21 to 1.42)</td><td>2.2 × 10<sup>−11</sup></td><td>0.02</td></tr><tr><td></td><td></td><td>rs8100241</td><td>19p13.11</td><td char="." align="char">17253894</td><td><italic>ANKLE1</italic></td><td>G</td><td>A</td><td>Yes</td><td>2,483 (0.48)</td><td>653 (0.52)</td><td>4,622 (0.48)</td><td>7,420 (0.52)</td><td>0.95 (0.86 to 1.05)</td><td>0.36</td><td>0.82 (0.78 to 0.86)</td><td>2.2 × 10<sup>−16</sup></td><td>0.01</td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs45631588</td><td>10q26</td><td char="." align="char">123341292</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>839 (0.44)</td><td>813 (0.48)</td><td>2,678 (0.44)</td><td>3,881 (0.39)</td><td>1.36 (1.24 to 1.49)</td><td>7.4 × 10<sup>−11</sup></td><td>1.19 (1.09 to 1.3)</td><td>1.7 × 10<sup>−4</sup></td><td>0.06</td></tr><tr><td></td><td></td><td>rs35850695</td><td>16q12.1</td><td char="." align="char">51131844</td><td><italic>TOX3</italic></td><td>G</td><td>A</td><td>Yes</td><td>839 (0.32)</td><td>813 (0.3)</td><td>2,678 (0.3)</td><td>3,881 (0.26)</td><td>1.2 (1.09 to 1.33)</td><td>3.0 × 10<sup>−4</sup></td><td>1.31 (1.19 to 1.44)</td><td>4.0 × 10<sup>−8</sup></td><td>0.26</td></tr><tr><td>Nodes</td><td><italic>BRCA1</italic> carriers</td><td>rs1498125</td><td>4q24</td><td char="." align="char">106412012</td><td><italic>TET2</italic></td><td>A</td><td>G</td><td>No</td><td>1,103 (0.2)</td><td>2,274 (0.23)</td><td>4,419 (0.22)</td><td>7,455 (0.2)</td><td>1.18 (1.1 to 1.25)</td><td>4.4 × 10<sup>−7</sup></td><td>0.98 (0.89 to 1.09)</td><td char="." align="char">0.74</td><td>5.7 × 10<sup>−3</sup></td></tr><tr><td></td><td></td><td>rs10069690</td><td>5p15.33</td><td char="." align="char">1332790</td><td><italic>TERT</italic></td><td>G</td><td>A</td><td>Yes</td><td>1,100 (0.3)</td><td>2,271 (0.29)</td><td>4,414 (0.3)</td><td>7,449 (0.26)</td><td>1.19 (1.12 to 1.26)</td><td>6.2 × 10<sup>−9</sup></td><td>1.24 (1.13 to 1.35)</td><td>2.0 × 10<sup>−6</sup></td><td>0.5</td></tr><tr><td></td><td></td><td>rs11743632</td><td>5q32</td><td char="." align="char">145389263</td><td><italic>SH3RF2</italic></td><td>G</td><td>A</td><td>No</td><td>1,103 (0.31)</td><td>2,274 (0.37)</td><td>4,418 (0.36)</td><td>7,453 (0.37)</td><td>1.05 (0.99 to 1.11)</td><td>0.1</td><td>0.8 (0.74 to 0.87)</td><td>2.3 × 10<sup>−7</sup></td><td>6.9 × 10<sup>−7</sup></td></tr><tr><td></td><td></td><td>rs9383936</td><td>6q25.1</td><td char="." align="char">151986307</td><td><italic>C6orf97</italic></td><td>G</td><td>A</td><td>Yes</td><td>1,103 (0.11)</td><td>2,274 (0.09)</td><td>4,420 (0.1)</td><td>7,455 (0.08)</td><td>1.16 (1.06 to 1.28)</td><td>1.3 × 10<sup>−3</sup></td><td>1.41 (1.24 to 1.6)</td><td>1.3 × 10<sup>−7</sup></td><td>0.03</td></tr><tr><td></td><td></td><td>rs2349485</td><td>7p22</td><td char="." align="char">8517481</td><td><italic>NXPH1</italic></td><td>A</td><td>C</td><td>No</td><td>1,091 (0.37)</td><td>2,249 (0.34)</td><td>4,374 (0.34)</td><td>7,398 (0.37)</td><td>0.87 (0.82 to 0.92)</td><td>8.5 × 10<sup>−7</sup></td><td>0.97 (0.90 to 1.06)</td><td char="." align="char">0.53</td><td>0.03</td></tr><tr><td></td><td></td><td>rs11669059</td><td>19p13.11</td><td char="." align="char">17261453</td><td><italic>ANKLE1</italic></td><td>A</td><td>G</td><td>Yes</td><td>1,103 (0.41)</td><td>2,273 (0.4)</td><td>4,418 (0.39)</td><td>7,452 (0.43)</td><td>0.85 (0.81 to 0.9)</td><td>2.9 × 10<sup>−9</sup></td><td>0.86 (0.80 to 0.93)</td><td>2.6 × 10<sup>−4</sup></td><td>0.81</td></tr><tr><td></td><td><italic>BRCA2</italic> carriers</td><td>rs2981578</td><td>10q26</td><td char="." align="char">123330301</td><td><italic>FGFR2</italic></td><td>A</td><td>G</td><td>Yes</td><td>795 (0.44)</td><td>1,047 (0.48)</td><td>2,428 (0.47)</td><td>3,819 (0.52)</td><td>0.87 (0.8 to 0.94)</td><td>7.4 × 10<sup>−4</sup></td><td>0.75 (0.68 to 0.82)</td><td>1.0 × 10<sup>−9</sup></td><td>0.02</td></tr><tr><td></td><td></td><td>rs35850695</td><td>16q12.1</td><td char="." align="char">51131844</td><td><italic>TOX3</italic></td><td>G</td><td>A</td><td>Yes</td><td>804 (0.31)</td><td>1,068 (0.3)</td><td>2,458 (0.3)</td><td>3,881 (0.26)</td><td>1.22 (1.12 to 1.33)</td><td>8.5 × 10<sup>−6</sup></td><td>1.30 (1.18 to 1.44)</td><td>2.6 × 10<sup>−7</sup></td><td>0.36</td></tr></tbody></table><table-wrap-foot><p><sup>a</sup>CI, Confidence interval; HR, Hazard ratio; MAF, Mean allele frequency. Single-nucleotide polymorphisms (SNPs) associated at <italic>P</italic> <10<sup>−6</sup> with high- or low-grade breast tumors and lymph node–positive or lymph node–negative breast cancer are shown. The most strongly associated SNPs from each locus are reported. <sup>b</sup>Position in build 36. <sup>c</sup>Reference allele. <sup>d</sup>Effect allele. <sup>e</sup>Variant located in previously reported breast cancer susceptibility locus. <sup>f</sup><italic>P</italic>-value for the difference in association between high-grade breast cancer and low-grade breast cancer for grade 3 and for the association with lymph node–positive breast cancer and lymph node–negative breast cancer.</p></table-wrap-foot></table-wrap></p></sec></sec><sec id="Sec15"><title>Discussion</title><p>This is the first comprehensive report, to our knowledge, of the associations of genetic variants with risk of developing breast cancer by tumor subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. We evaluated the associations with ER, PR and HER2 status; morphologic subtype (ductal or lobular); histological grade; and lymph node status.</p><p>Prior to this study, variants at five loci (5p15.33, 6q25.1, 11p15.5, 12p11.22 and 16q12.1) had been shown to be associated with breast cancer risk for both <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers; variants at four additional loci were known to be associated with breast cancer risk for <italic>BRCA1</italic> carriers only (1q32.1, 10q25.2, 14q24.1 and 19p13.11); and variants at six additional loci were known to be associated with risk for <italic>BRCA2</italic> carriers (3p24.1, 5p12, 6p24.3, 10q26.12, 11q13 and 12q24.21) [<xref ref-type="bibr" rid="CR6">6</xref>],[<xref ref-type="bibr" rid="CR7">7</xref>],[<xref ref-type="bibr" rid="CR10">10</xref>]. Among the 43 breast cancer susceptibility variants that had not previously been evaluated in mutation carriers, we observed six associations with breast cancer at <italic>P</italic> <0.05 in <italic>BRCA1</italic> carriers (5p33.3, 8q24.21, 11q24.3, 12q22, 16q12.1b and 22q13.1) and three in <italic>BRCA2</italic> carriers (6p23, 11q24.3 and 16q12.1b).</p><p>After stratifying by ER status, we observed additional associations that were not seen for overall breast cancer. Among the 43 susceptibility variants that were evaluated in mutation carriers for the first time, we identified two additional associations in <italic>BRCA1</italic> carriers when stratifying by ER status (3q26.1, 6p25.3) and four in <italic>BRCA2</italic> carriers (2q24, 14q13.3, 19q13.3, 22q12.2). Population-based studies have shown that seven of the 74 breast cancer susceptibility variants display stronger associations with ER-negative disease in the general population [<xref ref-type="bibr" rid="CR9">9</xref>]. Consistent with these findings, SNPs at 1q32.1 (<italic>MDM4</italic>), 5p15.33, 6q25.1 and 19p13 were associated with ER-negative breast cancer in <italic>BRCA1</italic> carriers and SNPs at 2p24.1, 5p15.33 and 6q25.1 in <italic>BRCA2</italic> carriers. No data were available for the SNP at 20q11.</p><p>We were able to confirm most of the associations with ER and PR subtypes of the 12 SNPs reported in the previous smaller CIMBA study [<xref ref-type="bibr" rid="CR15">15</xref>]. In addition, two variants from that analysis now displayed evidence at <italic>P</italic> <0.05: rs13387042 at 2q35 with ER-positive breast cancer in <italic>BRCA1</italic> carriers and rs2046210 at 6q25.1 with ER-negative breast cancer in <italic>BRCA2</italic> carriers.</p><p>We also evaluated the associations of the 74 previously reported breast cancer susceptibility loci with other breast cancer subtypes. Variants at 5p15.33 (<italic>TERT</italic>), 6q25.1 (<italic>ESR1</italic>) and 19p13.11 showed associations in all subtype analyses for <italic>BRCA1</italic> carriers. These are the most strongly associated loci for overall breast cancer in <italic>BRCA1</italic> carriers, but they had not previously been investigated for their roles in subtypes other than ER. Variants at these three loci were associated with ER-, PR- and HER2-negative and TN subtypes. These variants were also associated with risk of high-grade tumors, with some suggestive evidence that this association was different from the association with grades 1 and 2 tumors for SNPs at <italic>ESR1</italic> and 19p13. The three loci were associated with ductal as well as non-ductal subtypes and node-positive as well as node-negative breast cancer. For <italic>BRCA2</italic> carriers, SNPs at loci 10q26 (<italic>FGFR2</italic>) and 16q12.1 (<italic>TOX3</italic>) were associated with all subtypes of breast cancer. SNPs at <italic>FGFR2</italic> and <italic>TOX3</italic> have consistently been associated with overall and with ER-positive breast cancer in population-based cases [<xref ref-type="bibr" rid="CR25">25</xref>] as well as in <italic>BRCA1/2</italic> carriers [<xref ref-type="bibr" rid="CR15">15</xref>]. Furthermore, SNPs at these two loci were associated with PR-positive and HER2-negative disease. There was no evidence for a difference in HR estimates by tumor grade, nodal involvement or morphologic subtype (ductal).</p><p>It is important to note that for each of the 74 known loci considered, we evaluated only the associations for the specific SNPs that have been reported by the BCAC. We have not considered all genetic variants within a given region. Therefore, we cannot rule out the possibility that more strongly associated variants exist at these loci than the SNPs reported here. Future fine-mapping efforts in conjunction with BCAC analyses should clarify this. Such studies may also identify the causal variant and together with subsequent functional studies gather insights about the functional mechanisms causing these association signals. This in turn may yield insights about the etiology of breast cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers.</p><p>We compared HRs for the association with overall breast cancer and ER-positive and ER-negative breast cancer for all the 74 known breast cancer susceptibility variants between <italic>BRCA1</italic> carriers, <italic>BRCA2</italic> carriers and population-based studies using published data from BCAC. Although only some of these variants were associated at <italic>P</italic> <0.05 with breast cancer in mutation carriers as outlined above, there was nevertheless strong correlation between the HRs for overall breast cancer from the general population and those from <italic>BRCA2</italic> carriers, and moderate correlation between the HRs from <italic>BRCA1</italic> carriers and from BCAC. These results suggest that many of these variants may also be associated with breast cancer risk for mutation carriers, but the power to detect statistically significant associations in mutation carriers is low. These variants could be employed in risk prediction models for mutation carriers. Future studies should be aimed at assessing the associations of the combined effects of the SNPs in mutation carriers in terms of polygenic risk scores.</p><p>We used these comparisons to assess the hypothesis that observed differences in the associations between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers and the general population are mediated by ER status. The smaller correlation between the association estimates for <italic>BRCA1</italic> carriers and both BCAC and <italic>BRCA2</italic> carriers compared with those between BCAC and <italic>BRCA2</italic> carriers is consistent with this hypothesis. Moreover, we found stronger correlations between the HRs for ER-positive disease in all three two-way comparisons (ICC = 0.61 to 0.69). The correlation between ORs for ER-negative disease from BCAC and HRs for ER-negative disease from <italic>BRCA1</italic> carriers was also strong (ICC = 0.59). Correlations diminished when comparing HR estimates for ER-positive with estimates for ER-negative breast cancer; most of them were not significantly different from zero. This finding suggests that, to a large extent, the difference in SNP association patterns is due to mediating effects of tumor ER status. Under such a model, the effects of common breast cancer susceptibility variants and of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutations on breast cancer risk would be multiplicative, after taking into account tumor ER status. As <italic>BRCA1</italic> carriers are more likely to develop ER-negative disease, SNPs associated with this subtype will be more informative in models to predict overall breast cancer risk in these women, whereas SNPs associated with ER-positive disease will be more useful in <italic>BRCA2</italic> carriers. Furthermore, ER-specific SNP associations could be used to provide separate estimates of ER-negative and ER-positive breast cancer risk for mutation carriers. This understanding allows the development of more refined models and is critical to the provision of accurate information to women considering more targeted preventive options.</p><p>However, the fact that the correlations between the HR estimates matched for ER status were smaller than 1 implies that there were still some differences in the associations after accounting for ER status. This could be due to sampling error or to real differences in genetic associations between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers and the general population. There are examples for such differences: <italic>BRCA1</italic> and <italic>BRCA2</italic> carrier-specific modifiers, such as the recently identified variant at 6p24, which was associated with breast cancer risk only in <italic>BRCA2</italic> carriers [<xref ref-type="bibr" rid="CR6">6</xref>], and the ovarian cancer susceptibility locus 4q32, which appeared to modify ovarian cancer risk only for <italic>BRCA1</italic> carriers [<xref ref-type="bibr" rid="CR7">7</xref>]. In addition, an ovarian cancer susceptibility locus 17q11.2 identified through population-based data has been shown to display a consistent association in <italic>BRCA2</italic> carriers, whereas an association of similar magnitude has been ruled out in <italic>BRCA1</italic> carriers [<xref ref-type="bibr" rid="CR26">26</xref>]. The extent to which genetic susceptibility to breast cancer in mutation carriers and in the general population is shared, as well as the extent to which it is mediated by ER status, need to be quantified systematically by future studies.</p><p>We also assessed the associations of over 200,000 SNPs on the iCOGS array. We identified several variants not previously reported that were associated with breast cancer at <italic>P</italic> <10<sup>−6</sup> in the analyses by PR status, HER status, TN phenotype, histological grade, nodal involvement, ductal and lobular morphologic subtypes. In the absence of <italic>P</italic>-values at genome-wide significance levels for these associations to account for multiple testing, these associations require confirmation through by gathering additional data.</p><p>Although this is the largest study of its kind, the statistical power to detect associations of variants conferring small effects with specific tumor characteristics may be low, owing to the limited data available. Future studies of additional <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers with detailed tumor pathology information on new and previously recruited mutation carriers are needed. In this study, tumor pathology information was retrieved primarily from medical records. Despite extensive efforts, it is difficult to control the quality of these data. If there is low reproducibility in the classification of tumor characteristics for some samples, this could potentially add to the sampling error and make it more difficult to detect subtype-specific associations.</p></sec><sec id="Sec16"><title>Conclusions</title><p>We have identified additional genetic modifiers of breast cancer risk for mutation carriers among reported breast cancer susceptibility loci. Large differences in absolute risk are expected between mutation carriers who carry many and mutation carriers who carry few risk alleles of modifying variants [<xref ref-type="bibr" rid="CR6">6</xref>],[<xref ref-type="bibr" rid="CR7">7</xref>]. Therefore, in combination with previously identified modifiers, these variants may be of value for cancer risk prediction. Moreover, our results show that, to a large extent, the differences in breast cancer associations of known breast cancer susceptibility loci between <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers and the general population are due to differences in the prevalence of tumor subtypes in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. Estimates of the risks associated with these genetic variants based on large population-based association studies are likely to be applicable also to mutation carriers after taking ER status into account. Our results thus have implications for developing risk prediction models for breast cancer subtype-specific risks in mutation carriers that incorporate the effects of these SNPs.</p></sec><sec id="Sec17"><title>Additional file</title></sec><sec sec-type="supplementary-material"><title>Electronic supplementary material</title><sec id="Sec18"><p><supplementary-material content-type="local-data" id="MOESM1"><media xlink:href="13058_2014_492_MOESM1_ESM.pdf"><caption><p>Additional file 1: Table S1.: Ethics committees that granted approval for the access and use of the data for this study. <bold>Table S2.</bold> Hormone receptor definitions used by the studies. <bold>Table S3.</bold> Associations of breast cancer susceptibility variants with breast cancer by tumor ER status after excluding prevalent cases. <bold>Table S4.</bold> Associations of breast cancer susceptibility variants with breast cancer by tumor PR status. <bold>Table S5.</bold> Associations of breast cancer susceptibility variants with breast cancer by tumor HER2 status. <bold>Table S6.</bold> Associations of breast cancer susceptibility variants with breast cancer by tumor triple-negative status. <bold>Table S7.</bold> Associations of breast cancer susceptibility variants with ductal breast cancer. <bold>Table S8.</bold> Associations of breast cancer susceptibility variants with lobular breast cancer. <bold>Table S9.</bold> Associations of breast cancer susceptibility variants with breast cancer by tumor grade. <bold>Table S10.</bold> Associations of breast cancer susceptibility variants with breast cancer by nodal involvement. <bold>Figure S1.</bold> QQ plots for SNP associations with ER-positive and -negative breast cancer in <italic>BRCA1</italic> carriers. <bold>Figure S2.</bold> QQ plots for SNP associations with ER-positive and -negative breast cancer in <italic>BRCA2</italic> carriers. <bold>Figure S3.</bold> Comparison of the breast cancer associations of breast cancer susceptibility loci in BCAC and in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. <bold>Figure S4.</bold> Comparison of the associations of breast cancer susceptibility loci by ER status in <italic>BRCA1</italic> and in <italic>BRCA2</italic> carriers. <bold>Figure S5.</bold> Comparison of the associations of breast cancer susceptibility loci by ER status in population-based studies (BCAC) and in <italic>BRCA1</italic> carriers. <bold>Figure S6.</bold> Comparison of the associations of breast cancer susceptibility loci by ER status in population-based studies (BCAC) and in <italic>BRCA2</italic> carriers. (PDF 750 KB)</p></caption></media></supplementary-material></p><p>Below are the links to the authors’ original submitted files for images.<supplementary-material content-type="local-data" id="MOESM2"><media xlink:href="13058_2014_492_MOESM2_ESM.gif"><caption><p>Authors’ original file for figure 1</p></caption></media></supplementary-material></p></sec></sec></body><back><glossary><title>Abbreviations</title><def-list><def-item><term>BC</term><def><p>Breast cancer</p></def></def-item><def-item><term>BCAC</term><def><p>Breast Cancer Association Consortium</p></def></def-item><def-item><term>CIMBA</term><def><p>Consortium of Investigators of Modifiers of BRCA1/2</p></def></def-item><def-item><term>ER</term><def><p>Estrogen receptor</p></def></def-item><def-item><term>GWAS</term><def><p>Genome-wide association study</p></def></def-item><def-item><term>HER2</term><def><p>Human epidermal growth factor receptor 2</p></def></def-item><def-item><term>HR</term><def><p>Hazard ratio</p></def></def-item><def-item><term>ICC</term><def><p>Intraclass correlation</p></def></def-item><def-item><term>OR</term><def><p>Odds ratio</p></def></def-item><def-item><term>PR</term><def><p>Progesterone receptor</p></def></def-item><def-item><term>SNP</term><def><p>Single-nucleotide polymorphism</p></def></def-item><def-item><term>TN</term><def><p>Triple-negative</p></def></def-item></def-list></glossary><fn-group><fn><p><bold>Electronic supplementary material</bold></p><p>The online version of this article (doi:10.1186/s13058-014-0492-9) contains supplementary material, which is available to authorized users.</p></fn><fn><p><bold>Competing interests</bold></p><p>The authors declare that they have no competing interests.</p></fn><fn><p><bold>Authors’ contributions</bold></p><p>KBK, ACA, SLN, MR drafted the initial manuscript. KBK performed the statistical analyses. ACA, SLN, MR, AMM, DB, LM, KBK, ILA, ABS, MKS, RKS, CE, BW, HN, MT, MS, PR, SJR, SMD and FJC are members of the CIMBA pathology working group and participated in the design of the study. LM and DB are the CIMBA database managers. GCT initiated and coordinated CIMBA. All authors except KBK, DB, LM and AL acquired phenotypic data and DNA samples or performed SNP genotyping. All authors read and approved the final manuscript.</p></fn></fn-group><ack><title>Acknowledgements</title><p>This study would not have been possible without the contributions of the following people: Per Hall (COGS); Paul Pharoah, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang (BCAC), Andrew Berchuck (OCAC), Rosalind A Eeles, Ali Amin Al Olama, Zsofia Kote-Jarai, Sara Benlloch (PRACTICAL), Alison M Dunning, Ed Dicks, Craig Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, Anna Gonzalez-Neira and the staff of the CNIO genotyping unit, Daniel C Tessier, Francois Bacot, Daniel Vincent, Sylvie LaBoissière and Frederic Robidoux and the staff of McGill University and Génome Québec Innovation Centre, Stig E Bojesen, Sune F Nielsen, Borge G Nordestgaard, and the staff of the Copenhagen DNA laboratory, Sharon A Windebank, Christopher A Hilker, Jeffrey Meyer and the staff of Mayo Clinic Genotyping Core Facility; Maggie Angelakos, Judi Maskiell, Gillian Dite, Helen Tsimiklis; members and participants in the New York site of the Breast Cancer Family Registry; members and participants in the Ontario Familial Breast Cancer Registry; Vilius Rudaitis, Laimonas Griškevičius, Drs Janis Eglitis, Anna Krilova and Aivars Stengrevics; the families who contribute to the BMBSA study; Yuan Chun Ding and Linda Steele; Alicia Barroso, Rosario Alonso and Guillermo Pita; Monica Barile and Irene Feroce of the Istituto Europeo di Oncologia, Milan, Italy; Alessandra Viel of the Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Laura Ottini of the “Sapienza” University, Rome, Italy; Antonella Savarese and Aline Martayan of the Istituto Nazionale Tumori Regina Elena, Rome, Italy; Stefania Tommasi and Brunella Pilato of the Istituto Nazionale Tumori “Giovanni Paolo II”, Bari, Italy; Loris Bernard and the personnnel of the Cogentech Cancer Genetic Test Laboratory, Milan, Italy. The EMBRACE Collaborating Centers are: Coordinating Centre, Cambridge: Debra Frost, Steve Ellis, Radka Platte, Jo Perkins; North of Scotland Regional Genetics Service, Aberdeen: Zosia Miedzybrodzka, Helen Gregory; Northern Ireland Regional Genetics Service, Belfast: Patrick Morrison, Lisa Jeffers; West Midlands Regional Clinical Genetics Service, Birmingham: Trevor Cole, Kai-ren Ong, Jonathan Hoffman; South West Regional Genetics Service, Bristol: Alan Donaldson, Margaret James; East Anglian Regional Genetics Service, Cambridge: Marc Tischkowitz, Joan Paterson, Sarah Downing, Amy Taylor; Medical Genetics Services for Wales, Cardiff: Alexandra Murray, Mark T Rogers, Emma McCann; St James’s Hospital, Dublin & National Centre for Medical Genetics, Dublin: M John Kennedy, David Barton; South East of Scotland Regional Genetics Service, Edinburgh: Mary Porteous, Sarah Drummond; Peninsula Clinical Genetics Service, Exeter: Carole Brewer, Emma Kivuva, Anne Searle, Selina Goodman, Kathryn Hill; West of Scotland Regional Genetics Service, Glasgow: Rosemarie Davidson, Victoria Murday, Nicola Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah Gibson, Eshika Haque, Ed Tobias, Alexis Duncan; South East Thames Regional Genetics Service, Guy’s Hospital London: Louise Izatt, Chris Jacobs, Caroline Langman; North West Thames Regional Genetics Service, Harrow: Huw Dorkins; Leicestershire Clinical Genetics Service, Leicester: Julian Barwell; Yorkshire Regional Genetics Service, Leeds: Julian Adlard, Gemma Serra-Feliu; Cheshire & Merseyside Clinical Genetics Service, Liverpool: Ian Ellis, Claire Foo; Manchester Regional Genetics Service, Manchester: D Gareth Evans, Fiona Lalloo, Jane Taylor; North East Thames Regional Genetics Service, NE Thames, London: Lucy Side, Alison Male, Cheryl Berlin; Nottingham Centre for Medical Genetics, Nottingham: Jacqueline Eason, Rebecca Collier; Northern Clinical Genetics Service, Newcastle: Fiona Douglas, Oonagh Claber, Irene Jobson; Oxford Regional Genetics Service, Oxford: Lisa Walker, Diane McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner; the Institute of Cancer Research and Royal Marsden NHS Foundation Trust: Ros Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth Bancroft, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer Wiggins, Elena Castro, Anita Mitra; North Trent Clinical Genetics Service, Sheffield: Jackie Cook, Oliver Quarrell, Cathryn Bardsley; South West Thames Regional Genetics Service, London: Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton: Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna McBride, Sarah Smalley; JoEllen Weaver and Dr Betsy Bove; National Cancer Genetics Network UNICANCER Genetic Group, France; GEMO collaborating groups: Coordinating Centres, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, & Equipe Génétique du cancer du sein, Centre de Recherche en Cancérologie de Lyon: Olga Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Laure Barjhoux, Carole Verny-Pierre, Alain Calender, Sophie Giraud, Mélanie Léone; and Service de Génétique Oncologique, Institut Curie, Paris: Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Claude Houdayer, Virginie Moncoutier, Muriel Belotti, Carole Tirapo, Antoine de Pauw; Institut Gustave Roussy, Villejuif: Brigitte Bressac-de-Paillerets, Olivier Caron; Centre Jean Perrin, Clermont-Ferrand: Yves-Jean Bignon, Nancy Uhrhammer; Centre Léon Bérard, Lyon: Christine Lasset, Valérie Bonadona, Sandrine Handallo. Centre François Baclesse, Caen: Agnès Hardouin, Pascaline Berthet; Institut Paoli Calmettes, Marseille: Hagay Sobol, Violaine Bourdon, Tetsuro Noguchi, Audrey Remenieras, François Eisinger; CHU Arnaud-de-Villeneuve, Montpellier: Isabelle Coupier, Pascal Pujol; Centre Oscar Lambret, Lille: Jean-Philippe Peyrat, Joëlle Fournier, Françoise Révillion, Philippe Vennin, Claude Adenis; Hôpital René Huguenin/Institut Curie, St Cloud: Etienne Rouleau, Rosette Lidereau, Liliane Demange, Catherine Nogues; Centre Paul Strauss, Strasbourg: Danièle Muller, Jean-Pierre Fricker; Institut Bergonié, Bordeaux: Emmanuelle Barouk-Simonet, Françoise Bonnet, Virginie Bubien, Nicolas Sevenet, Michel Longy; Institut Claudius Regaud, Toulouse: Christine Toulas, Rosine Guimbaud, Laurence Gladieff, Viviane Feillel; CHU Grenoble: Dominique Leroux, Hélène Dreyfus, Christine Rebischung, Magalie Peysselon; CHU Dijon: Fanny Coron, Laurence Faivre; CHU St-Etienne: Fabienne Prieur, Marine Lebrun, Caroline Kientz; Hôtel Dieu Centre Hospitalier, Chambéry: Sandra Fert Ferrer; Centre Antoine Lacassagne, Nice: Marc Frénay; CHU Limoges: Laurence Vénat-Bouvet; CHU Nantes: Capucine Delnatte; CHU Bretonneau, Tours: Isabelle Mortemousque; Groupe Hospitalier Pitié-Salpétrière, Paris: Florence Coulet, Chrystelle Colas, Florent Soubrier; CHU Vandoeuvre-les-Nancy: Johanna Sokolowska, Myriam Bronner; CHU Besançon: Marie-Agnès Collonge-Rame, Alexandre Damette; Creighton University, Omaha, NE, USA: Henry T Lynch, Carrie L Snyder; technical support of Ilse Coene en Brecht Crombez; Pedro Perez Segura, Atocha Romero, Paula Diaque and families; Drs Kristiina Aittomäki, Carl Blomqvist and Kirsimari Aaltonen, Taru A Muranen and registered nurses Irja Erkkilä and Virpi Palola. HEBON consists of the following collaborating centers: Coordinating center: Netherlands Cancer Institute, Amsterdam: MA Rookus, FBL Hogervorst, FE van Leeuwen, S Verhoef, MK Schmidt, JL de Lange, R Wijnands; Erasmus Medical Center, Rotterdam: JM Collée, AMW van den Ouweland, MJ Hooning, C Seynaeve, CHM van Deurzen, IM Obdeijn; Leiden University Medical Center, the Netherlands: CJ van Asperen, JT Wijnen, RAEM Tollenaar, P Devilee, TCTEF van Cronenburg; Radboud University Nijmegen Medical Center, the Netherlands: CM Kets, AR Mensenkamp; University Medical Center Utrecht, the Netherlands: MGEM Ausems, RB van der Luijt; Amsterdam Medical Center: CM Aalfs, TAM van Os; VU University Medical Center, Amsterdam: JJP Gille, Q Waisfisz, HEJ Meijers-Heijboer; University Hospital Maastricht, the Netherlands: EB Gómez-Garcia, MJ Blok; University Medical Center Groningen, the Netherlands: JC Oosterwijk, AH van der Hout, MJ Mourits, GH de Bock; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden: HF Vasen; The Netherlands Cancer Registry: S Siesling; The Dutch Pathology Registry (PALGA): LIH Overbeek; Hong Kong Sanatorium & Hospital; Hungarian Breast and Ovarian Cancer Study Group members: Janos Papp, Tibor Vaszko, Aniko Bozsik, Timea Pocza, Judit Franko, Maria Balogh, Gabriella Domokos, Judit Ferenczi, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary, and the clinicians and patients; Oncogenetics Group and the High Risk and Cancer Prevention Unit of the University Hospital Vall d’Hebron led by Dr J Balmaña; ICO Hereditary Cancer Program team led by Dr Gabriel Capella; Dr Martine Dumont, Martine Tranchant. JS is Chairholder of the Canada Research Chair in Oncogenetics. JS and PS were part of the QC and Genotyping coordinating group of iCOGS (BCAC and CIMBA); Drs Ana Peixoto, Catarina Santos, Patrícia Rocha and Pedro Pinto; Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study and the many families who contribute to kConFab; Modifier Study of Quantitative Effects on Disease (MODSQUAD) acknowledges ModSQuaD members Csilla Szabo (National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA); Lenka Foretova and Eva Machackova (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic); and Michal Zikan, Petr Pohlreich and Zdenek Kleibl (Oncogynecologic Center and Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic); the NICCC National Familial Cancer Consultation Service team led by Sara Dishon, the lab team led by Dr Flavio Lejbkowicz, and the research field operations team led by Dr Mila Pinchev; Teresa Selander, Nayana Weerasooriya; Kevin Sweet, Caroline Craven, and Michelle O’Conor; The Ohio State University (OSU) Human Genetics Sample Bank; Yip Cheng Har, Nur Aishah Mohd Taib, Phuah Sze Yee, Norhashimah Hassan and all the research nurses, research assistants and doctors involved in the MyBrCa Study; Philip Iau, Sng Jen-Hwei and Sharifah Nor Akmal; Meirav comprehensive breast cancer center team at the Sheba Medical Center; Swedish scientists participating as SWE-BRCA collaborators are: from Lund University and University Hospital: Åke Borg, Håkan Olsson, Helena Jernström, Karin Henriksson, Katja Harbst, Maria Soller, Niklas Loman, Ulf Kristoffersson; from Gothenburg Sahlgrenska University Hospital: Anna Öfverholm, Margareta Nordling, Per Karlsson, Zakaria Einbeigi; from Stockholm and Karolinska University Hospital: Anna von Wachenfeldt, Annelie Liljegren, Annika Lindblom, Brita Arver, Gisela Barbany Bustinza, Johanna Rantala; from Umeå University Hospital: Beatrice Melin, Christina Edwinsdotter Ardnor, Monica Emanuelsson; from Uppsala University: Hans Ehrencrona, Maritta Hellström Pigg, Richard Rosenquist; from Linköping University Hospital: Marie Stenmark-Askmalm, Sigrun Liedgren; Cecilia Zvocec, Qun Niu, physicians, genetic counselors, research nurses and staff of the Cancer Risk Clinic, and the many families who contribute to our program; Joyce Seldon, MSGC, and Lorna Kwan, MPH; Dr Robert Nussbaum and the following genetic counselors for participant recruitment: Beth Crawford, Kate Loranger, Julie Mak, Nicola Stewart, Robin Lee, Amie Blanco and Peggy Conrad; Salina Chan; Paul Pharoah, Simon Gayther, Susan Ramus, Carole Pye, Patricia Harrington and Eva Wozniak; Geoffrey Lindeman, Marion Harris, Martin Delatycki of the Victorian Familial Cancer Trials Group; Sarah Sawyer, Rebecca Driessen and Ella Thompson.</p><p><bold>Funding statement</bold></p><p>The CIMBA data management and analysis are funded through Cancer Research UK grant C12292/A11174. ACA is a Senior Cancer Research UK Research Fellow. Funding for the iCOGS infrastructure came from: the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112: the Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative), the US Department of Defense (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. This work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US government or the BCFR. This work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this article does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US government or the BCFR. This work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US government or the BCFR. BFBOCC is partly supported by: Lithuania (BFBOCC-LT): Research Council of Lithuania grant LIG-07/2012; Latvia (BFBOCC-LV) is partly supported by LSC grant 10.0010.08 and in part by a grant from the ESF 2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016 and Liepaja’s municipal council.</p><p>BIDMC is supported by the Breast Cancer Research Foundation. BRCA-gene mutations and breast cancer in South African women (BMBSA) was supported by grants from the Cancer Association of South Africa (CANSA) to Elizabeth J van Rensburg. SLN was partially supported by the Morris and Horowitz Families Endowed Professorship. This work was supported by the NEYE Foundation. The CNIO study was supported by Spanish Association against Cancer (AECC08), RTICC 06/0020/1060 and FISPI12/00070 and Mutua Madrileña Foundation (FMMA). City of Hope Clinical Cancer Genetics Community Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (Principal Investigator: J Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Funds from Italian citizens who allocated the “5 × 1000” share of their tax payment, according to Italian laws, in support of the Fondazione IRCCS Istituto Nazionale Tumori (to SM), and of IRCCS AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro (to LV); Italian Association for Cancer Research (AIRC) to GG; Associazione CAOS-Varese (to MGT). SH is supported by an NHMRC Program Grant (to GCT). GCT is an NHMRC Senior Principal Research Fellow. This research has been cofinanced by the European Union (European Social Fund (ESF)) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF), Research Funding Program of the General Secretariat for Research & Technology: ARISTEIA, investing in knowledge society through the European Social Fund. The DKFZ study was supported by the DKFZ. EMBRACE is supported by Cancer Research UK grants C1287/A10118, C1287/A16563 and C1287/A17523. D Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles and Elizabeth Bancroft are supported by Cancer Research UK grant C5047/A8385. The authors acknowledge support from The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program. AKG was funded by grants 5U01 CA113916, R01 CA140323 from the National Institutes of Health and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) is supported by the German Cancer Aid (grant no 109076, Rita K Schmutzler) and by the Center for Molecular Medicine Cologne (CMMC). The study was supported by the Ligue National Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award; and the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program. Tom Van Maerken is senior clinical investigator of FWO. This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) Administrative Office and Tissue Bank (CA 27469), the GOG Statistical and Data Center (CA 37517), and GOG’s Cancer Prevention and Control Committee (CA 101165). Drs Greene, Mai and Savage were supported by funding from the NCI Intramural Research Program. HCSC was supported by a grant RD12/00369/0006 and 12/00539 from ISCIII (Spain), partially supported by European Regional Development FEDER funds. The HEBCS was financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (266528), the Finnish Cancer Society and the Sigrid Juselius Foundation. The HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organization of Scientific Research grant NWO 91109024, the Pink Ribbon grant 110005 and the BBMRI grant NWO 184.021.007/CP46. HEBON thanks the registration teams of the Comprehensive Cancer Centre Netherlands and Comprehensive Centre South (together the Netherlands Cancer Registry) and PALGA (Dutch Pathology Registry) for part of the data collection. HRBCP is supported by The Hong Kong Hereditary Breast Cancer Family Registry and the Dr Ellen Li Charitable Foundation, Hong Kong.</p><p>The Hungarian Breast and Ovarian Cancer Study was supported by Hungarian Research Grants KTIA-OTKA CK-80745 and OTKA K-112228. ICO: Contract grant sponsor: Asociación Española Contra el Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia. Contract grants ISCIIIRETIC RD06/0020/1051, RD12/0036/008, PI10/01422, PI10/00748, PI13/00285 and 2009SGR290. The IHCC was supported by Grant PBZ_KBN_122/P05/2004. The ILUH group was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. This work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program, Canadian Breast Cancer Research Alliance grant 019511 and Ministry of Economic Development, Innovation and Export Trade grant PSR-SIIRI-701. IOVHBOCS is supported by Ministero della Salute and “5 × 1000” Istituto Oncologico Veneto grant. This study was in part supported by Liga Portuguesa Contra o Cancro. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. GCT and ABS are supported by the NHMRC Research Fellowship scheme. KOHBRA is supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea (1020350). MAYO is supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a US Department of Defense Ovarian Cancer Idea award (W81XWH-10-1-0341) and a grant from the Breast Cancer Research Foundation.</p><p>Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. MODSQUAD was supported by MH CZ - DRO (MMCI, 00209805) and by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101) (to LF), and by Charles University in Prague project UNCE204024 (MZ). MSKCC is supported by grants from the Breast Cancer Research Foundation and Robert and Kate Niehaus Clinical Cancer Genetics Initiative 1R01 CA149429-01. The research of MH Greene and PL Mai was supported by the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts N02-CP-11019-50 and N02-CP-65504 with Westat (Rockville, MD, USA). NICCC is supported by Clalit Health Services in Israel. Some of its activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), New York.</p><p>This work has been supported by the Russian Foundation for Basic Research (grant 13-04-92613).</p><p>This work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US government or the BCFR. OSUCCG is supported by The Ohio State University Comprehensive Cancer Center. This work was supported by the ITT (Istituto Toscano Tumori) grants 2011–2013; the Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06); and the Cancer Research Initiatives Foundation. This project was partially funded through a grant by the Israel cancer association and the funding for the Israeli Inherited breast cancer consortium.</p><p>SWE-BRCA collaborators are supported by the Swedish Cancer Society. UCHICAGO is supported by NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01 CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women’s Cancer Research Alliance and the Breast Cancer Research Foundation. OIO is an ACS Clinical Research Professor. Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. UKFOCR was supported by a project grant from CRUK to Paul Pharoah. National Institutes of Health (NIH) (R01 CA102776 and R01 CA083855; Breast Cancer Research Foundation; Susan G Komen Foundation for the cure, Basser Research Center for BRCA. Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation. 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