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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of <italic>BRCA2</italic>
mutation carriers</title>
<author><name sortKey="Stevens, Kristen N" sort="Stevens, Kristen N" uniqKey="Stevens K" first="Kristen N." last="Stevens">Kristen N. Stevens</name>
<affiliation><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name>
<affiliation><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A3">Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland, USA</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="A4">Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, Ontario, Canada</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A6">Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</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="A8">Odense University Hospital, Department of Clinical Genetics, Odense, Denmark</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Caligo, Maria" sort="Caligo, Maria" uniqKey="Caligo M" first="Maria" last="Caligo">Maria Caligo</name>
<affiliation><nlm:aff id="A9">Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy</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="A12">Abramson Cancer Center and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</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="A13">International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="A14">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</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="A15">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</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="A16">Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania</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="A17">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A18">GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France</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="A19">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</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="A20">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA</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="A21">Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW, Medical University of Vienna, Vienna, Austria</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name>
<affiliation><nlm:aff id="A22">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="A23">Department of Pathology, Landspitali-LSH, Reykjavik, Iceland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A24">Faculty of Medicine, University of Iceland, Reykjavik, Iceland</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="A25">Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA</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="A26">GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, USA</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="A27">Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Imyanitov, Evgeny" sort="Imyanitov, Evgeny" uniqKey="Imyanitov E" first="Evgeny" last="Imyanitov">Evgeny Imyanitov</name>
<affiliation><nlm:aff id="A28">Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</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="A29">Latvian Biomedical Research and Study Centre, Riga, Latvia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sucheston, Lara" sort="Sucheston, Lara" uniqKey="Sucheston L" first="Lara" last="Sucheston">Lara Sucheston</name>
<affiliation><nlm:aff id="A30">Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beattie, Mary" sort="Beattie, Mary" uniqKey="Beattie M" first="Mary" last="Beattie">Mary Beattie</name>
<affiliation><nlm:aff id="A31">Department of Medicine, University of California at San Francisco, San Francisco, California, USA</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="A34">Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, 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="A36">Department of Biological Sciences, University of Delaware, Newark, Delaware, 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="A38">Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A37">Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne, Australia</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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
<affiliation><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</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="A40">Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast, United Kingdom</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="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 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="A39">Queensland Institute of Medical Research, Brisbane, Australia</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="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</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="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23011509</idno>
<idno type="pmc">3482828</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482828</idno>
<idno type="RBID">PMC:3482828</idno>
<idno type="doi">10.1007/s10549-012-2255-6</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">002007</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002007</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of <italic>BRCA2</italic>
mutation carriers</title>
<author><name sortKey="Stevens, Kristen N" sort="Stevens, Kristen N" uniqKey="Stevens K" first="Kristen N." last="Stevens">Kristen N. Stevens</name>
<affiliation><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name>
<affiliation><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, 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="A3">Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland, USA</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="A4">Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, Ontario, Canada</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A6">Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</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="A8">Odense University Hospital, Department of Clinical Genetics, Odense, Denmark</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Caligo, Maria" sort="Caligo, Maria" uniqKey="Caligo M" first="Maria" last="Caligo">Maria Caligo</name>
<affiliation><nlm:aff id="A9">Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy</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="A12">Abramson Cancer Center and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</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="A13">International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="A14">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</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="A15">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</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="A16">Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania</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="A17">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A18">GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France</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="A19">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</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="A20">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA</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="A21">Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW, Medical University of Vienna, Vienna, Austria</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name>
<affiliation><nlm:aff id="A22">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="A23">Department of Pathology, Landspitali-LSH, Reykjavik, Iceland</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A24">Faculty of Medicine, University of Iceland, Reykjavik, Iceland</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="A25">Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA</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="A26">GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, USA</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="A27">Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Imyanitov, Evgeny" sort="Imyanitov, Evgeny" uniqKey="Imyanitov E" first="Evgeny" last="Imyanitov">Evgeny Imyanitov</name>
<affiliation><nlm:aff id="A28">Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</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="A29">Latvian Biomedical Research and Study Centre, Riga, Latvia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sucheston, Lara" sort="Sucheston, Lara" uniqKey="Sucheston L" first="Lara" last="Sucheston">Lara Sucheston</name>
<affiliation><nlm:aff id="A30">Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beattie, Mary" sort="Beattie, Mary" uniqKey="Beattie M" first="Mary" last="Beattie">Mary Beattie</name>
<affiliation><nlm:aff id="A31">Department of Medicine, University of California at San Francisco, San Francisco, California, USA</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="A34">Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, 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="A36">Department of Biological Sciences, University of Delaware, Newark, Delaware, 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="A38">Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A37">Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne, Australia</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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
<affiliation><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</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="A40">Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast, United Kingdom</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="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 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="A39">Queensland Institute of Medical Research, Brisbane, Australia</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="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</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="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Breast cancer research and treatment</title>
<idno type="ISSN">0167-6806</idno>
<idno type="eISSN">1573-7217</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for <italic>BRCA1</italic>
and/or <italic>BRCA2</italic>
mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for <italic>BRCA1</italic>
and <italic>BRCA2</italic>
mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for <italic>BRCA2</italic>
mutation carriers [Hazard ratio (HR)=1.55, 95% CI 1.25–1.92, p=6.0×10<sup>−5</sup>
]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here we report on an analysis of this variant in an additional 6,165 <italic>BRCA1</italic>
and 3,900 <italic>BRCA2</italic>
mutation carriers from the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>
(CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for <italic>BRCA2</italic>
mutation carriers [HR=1.09, 95% CI 0.96–1.24, p=0.18]. No association with ovarian cancer risk for <italic>BRCA1</italic>
or <italic>BRCA2</italic>
mutation carriers or with breast cancer risk for <italic>BRCA1</italic>
mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline <italic>BRCA2</italic>
mutations.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8111104</journal-id>
<journal-id journal-id-type="pubmed-jr-id">1254</journal-id>
<journal-id journal-id-type="nlm-ta">Breast Cancer Res Treat</journal-id>
<journal-id journal-id-type="iso-abbrev">Breast Cancer Res. Treat.</journal-id>
<journal-title-group><journal-title>Breast cancer research and treatment</journal-title>
</journal-title-group>
<issn pub-type="ppub">0167-6806</issn>
<issn pub-type="epub">1573-7217</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23011509</article-id>
<article-id pub-id-type="pmc">3482828</article-id>
<article-id pub-id-type="doi">10.1007/s10549-012-2255-6</article-id>
<article-id pub-id-type="manuscript">NIHMS410410</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of <italic>BRCA2</italic>
mutation carriers</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Stevens</surname>
<given-names>Kristen N.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wang</surname>
<given-names>Xianshu</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fredericksen</surname>
<given-names>Zachary</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pankratz</surname>
<given-names>Vernon S.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Greene</surname>
<given-names>Mark H.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Andrulis</surname>
<given-names>Irene L.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref ref-type="aff" rid="A5">5</xref>
<xref ref-type="aff" rid="A6">6</xref>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Thomassen</surname>
<given-names>Mads</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Caligo</surname>
<given-names>Maria</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><collab>SWE-BRCA</collab>
<xref ref-type="aff" rid="A10">10</xref>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nathanson</surname>
<given-names>Katherine L.</given-names>
</name>
<xref ref-type="aff" rid="A12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jakubowska</surname>
<given-names>Anna</given-names>
</name>
<xref ref-type="aff" rid="A13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Osorio</surname>
<given-names>Ana</given-names>
</name>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hamann</surname>
<given-names>Ute</given-names>
</name>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Godwin</surname>
<given-names>Andrew K.</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname>
<given-names>Dominique</given-names>
</name>
<xref ref-type="aff" rid="A17">17</xref>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Southey</surname>
<given-names>Melissa</given-names>
</name>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Buys</surname>
<given-names>Saundra S.</given-names>
</name>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Singer</surname>
<given-names>Christian F.</given-names>
</name>
<xref ref-type="aff" rid="A21">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hansen</surname>
<given-names>Thomas V.O.</given-names>
</name>
<xref ref-type="aff" rid="A22">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Arason</surname>
<given-names>Adalgeir</given-names>
</name>
<xref ref-type="aff" rid="A23">23</xref>
<xref ref-type="aff" rid="A24">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Offit</surname>
<given-names>Kenneth</given-names>
</name>
<xref ref-type="aff" rid="A25">25</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Piedmonte</surname>
<given-names>Marion</given-names>
</name>
<xref ref-type="aff" rid="A26">26</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Montagna</surname>
<given-names>Marco</given-names>
</name>
<xref ref-type="aff" rid="A27">27</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Imyanitov</surname>
<given-names>Evgeny</given-names>
</name>
<xref ref-type="aff" rid="A28">28</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tihomirova</surname>
<given-names>Laima</given-names>
</name>
<xref ref-type="aff" rid="A29">29</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sucheston</surname>
<given-names>Lara</given-names>
</name>
<xref ref-type="aff" rid="A30">30</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beattie</surname>
<given-names>Mary</given-names>
</name>
<xref ref-type="aff" rid="A31">31</xref>
</contrib>
<contrib contrib-type="author"><collab>HEBON</collab>
<xref ref-type="aff" rid="A32">32</xref>
</contrib>
<contrib contrib-type="author"><collab>GC-HBOC</collab>
<xref ref-type="aff" rid="A33">33</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Neuhausen</surname>
<given-names>Susan L.</given-names>
</name>
<xref ref-type="aff" rid="A34">34</xref>
</contrib>
<contrib contrib-type="author"><collab>CONSIT Team</collab>
<xref ref-type="aff" rid="A35">35</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Szabo</surname>
<given-names>Csilla I.</given-names>
</name>
<xref ref-type="aff" rid="A36">36</xref>
</contrib>
<contrib contrib-type="author"><collab>kConFab</collab>
<xref ref-type="aff" rid="A37">37</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Simard</surname>
<given-names>Jacques</given-names>
</name>
<xref ref-type="aff" rid="A38">38</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spurdle</surname>
<given-names>Amanda B.</given-names>
</name>
<xref ref-type="aff" rid="A39">39</xref>
<xref ref-type="aff" rid="A37">37</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Healey</surname>
<given-names>Sue</given-names>
</name>
<xref ref-type="aff" rid="A39">39</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chen</surname>
<given-names>Xiaoqing</given-names>
</name>
<xref ref-type="aff" rid="A39">39</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rebbeck</surname>
<given-names>Timothy R.</given-names>
</name>
<xref ref-type="aff" rid="A40">40</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Easton</surname>
<given-names>Douglas F.</given-names>
</name>
<xref ref-type="aff" rid="A41">41</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chenevix-Trench</surname>
<given-names>Georgia</given-names>
</name>
<xref ref-type="aff" rid="A39">39</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Antoniou</surname>
<given-names>Antonis C</given-names>
</name>
<xref ref-type="aff" rid="A41">41</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Couch</surname>
<given-names>Fergus J.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</aff>
<aff id="A2"><label>2</label>
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</aff>
<aff id="A3"><label>3</label>
Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland, USA</aff>
<aff id="A4"><label>4</label>
Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, Ontario, Canada</aff>
<aff id="A5"><label>5</label>
Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York, USA</aff>
<aff id="A6"><label>6</label>
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</aff>
<aff id="A7"><label>7</label>
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</aff>
<aff id="A8"><label>8</label>
Odense University Hospital, Department of Clinical Genetics, Odense, Denmark</aff>
<aff id="A9"><label>9</label>
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy</aff>
<aff id="A10"><label>10</label>
SWE-BRCA collaborators: Per Karlsson, Margareta Nordling, Annika Bergman and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linköping University Hospital; Åke Borg, Niklas Loman, Håkan Olsson, Maria Soller, Helena Jernström, Katja Harbst and Karin Henriksson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza and Johanna Rantala, Stockholm, Karolinska University Hospital; Beatrice Melin, Henrik Grönberg, Eva-Lena Stattin and Monica Emanuelsson, Umeå University Hospital; Hans Ehrencrona, Richard Rosenquist and Niklas Dahl, Uppsala University Hospital.</aff>
<aff id="A11"><label>11</label>
Swedish Breast Cancer Study, Sweden</aff>
<aff id="A12"><label>12</label>
Abramson Cancer Center and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff>
<aff id="A13"><label>13</label>
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</aff>
<aff id="A14"><label>14</label>
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</aff>
<aff id="A15"><label>15</label>
Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</aff>
<aff id="A16"><label>16</label>
Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania</aff>
<aff id="A17"><label>17</label>
INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France;</aff>
<aff id="A18"><label>18</label>
GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France</aff>
<aff id="A19"><label>19</label>
Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</aff>
<aff id="A20"><label>20</label>
Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA</aff>
<aff id="A21"><label>21</label>
Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW, Medical University of Vienna, Vienna, Austria</aff>
<aff id="A22"><label>22</label>
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</aff>
<aff id="A23"><label>23</label>
Department of Pathology, Landspitali-LSH, Reykjavik, Iceland</aff>
<aff id="A24"><label>24</label>
Faculty of Medicine, University of Iceland, Reykjavik, Iceland</aff>
<aff id="A25"><label>25</label>
Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA</aff>
<aff id="A26"><label>26</label>
GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, USA</aff>
<aff id="A27"><label>27</label>
Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy</aff>
<aff id="A28"><label>28</label>
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</aff>
<aff id="A29"><label>29</label>
Latvian Biomedical Research and Study Centre, Riga, Latvia</aff>
<aff id="A30"><label>30</label>
Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA</aff>
<aff id="A31"><label>31</label>
Department of Medicine, University of California at San Francisco, San Francisco, California, USA</aff>
<aff id="A32"><label>32</label>
HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON)</aff>
<aff id="A33"><label>33</label>
German Consortium for Hereditary Breast and Ovarian Cancer</aff>
<aff id="A34"><label>34</label>
Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA</aff>
<aff id="A35"><label>35</label>
CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella</aff>
<aff id="A36"><label>36</label>
Department of Biological Sciences, University of Delaware, Newark, Delaware, USA</aff>
<aff id="A37"><label>37</label>
Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne, Australia</aff>
<aff id="A38"><label>38</label>
Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</aff>
<aff id="A39"><label>39</label>
Queensland Institute of Medical Research, Brisbane, Australia</aff>
<aff id="A40"><label>40</label>
Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast, United Kingdom</aff>
<aff id="A41"><label>41</label>
Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff>
<author-notes><corresp id="cor1"><bold>Corresponding author:</bold>
Fergus J. Couch, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA, Phone: 507-284-3623, Fax: 507-538-1937, <email>couch.fergus@mayo.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>27</day>
<month>9</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>26</day>
<month>9</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><month>11</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>11</month>
<year>2013</year>
</pub-date>
<volume>136</volume>
<issue>1</issue>
<fpage>295</fpage>
<lpage>302</lpage>
<abstract><p id="P1">Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for <italic>BRCA1</italic>
and/or <italic>BRCA2</italic>
mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for <italic>BRCA1</italic>
and <italic>BRCA2</italic>
mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for <italic>BRCA2</italic>
mutation carriers [Hazard ratio (HR)=1.55, 95% CI 1.25–1.92, p=6.0×10<sup>−5</sup>
]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here we report on an analysis of this variant in an additional 6,165 <italic>BRCA1</italic>
and 3,900 <italic>BRCA2</italic>
mutation carriers from the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>
(CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for <italic>BRCA2</italic>
mutation carriers [HR=1.09, 95% CI 0.96–1.24, p=0.18]. No association with ovarian cancer risk for <italic>BRCA1</italic>
or <italic>BRCA2</italic>
mutation carriers or with breast cancer risk for <italic>BRCA1</italic>
mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline <italic>BRCA2</italic>
mutations.</p>
</abstract>
<kwd-group><kwd><italic>BRCA1</italic>
</kwd>
<kwd><italic>BRCA2</italic>
</kwd>
<kwd>genetic modifier</kwd>
<kwd>association study</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069638 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069631 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069467 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069446 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069417 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069398 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>RC4 CA153828 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R25 CA092049 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R01 CA128978 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R01 CA122340 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R01 CA083855 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R01 CA074415 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>P50 CA116201 || CA</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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