Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Identifieur interne : 001880 ( Pmc/Corpus ); précédent : 001879; suivant : 001881Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Auteurs : Xianshu Wang ; V. Shane Pankratz ; Zachary Fredericksen ; Robert Tarrell ; Mary Karaus ; Lesley Mcguffog ; Paul D. P. Pharaoh ; Bruce A. J. Ponder ; Alison M. Dunning ; Susan Peock ; Margaret Cook ; Clare Oliver ; Debra Frost ; Olga M. Sinilnikova ; Dominique Stoppa-Lyonnet ; Sylvie Mazoyer ; Claude Houdayer ; Frans B. L. Hogervorst ; Maartje J. Hooning ; Marjolijn J. Ligtenberg ; Amanda Spurdle ; Georgia Chenevix-Trench ; Rita K. Schmutzler ; Barbara Wappenschmidt ; Christoph Engel ; Alfons Meindl ; Susan M. Domchek ; Katherine L. Nathanson ; Timothy R. Rebbeck ; Christian F. Singer ; Daphne Gschwantler-Kaulich ; Catherina Dressler ; Anneliese Fink ; Csilla I. Szabo ; Michal Zikan ; Lenka Foretova ; Kathleen Claes ; Gilles Thomas ; Robert N. Hoover ; David J. Hunter ; Stephen J. Chanock ; Douglas F. Easton ; Antonis C. Antoniou ; Fergus J. CouchSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2010.
Abstract
Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in
Url:
DOI: 10.1093/hmg/ddq174
PubMed: 20418484
PubMed Central: 2893806
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PMC:2893806Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers</title><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pankratz, V Shane" sort="Pankratz, V Shane" uniqKey="Pankratz V" first="V. Shane" last="Pankratz">V. Shane Pankratz</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</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="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tarrell, Robert" sort="Tarrell, Robert" uniqKey="Tarrell R" first="Robert" last="Tarrell">Robert Tarrell</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Karaus, Mary" sort="Karaus, Mary" uniqKey="Karaus M" first="Mary" last="Karaus">Mary Karaus</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pharaoh, Paul D P" sort="Pharaoh, Paul D P" uniqKey="Pharaoh P" first="Paul D. P." last="Pharaoh">Paul D. P. Pharaoh</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Ponder, Bruce A J" sort="Ponder, Bruce A J" uniqKey="Ponder B" first="Bruce A. J." last="Ponder">Bruce A. J. Ponder</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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="af5"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</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="af6"><addr-line>INSERM U509, Service de Génétique Oncologique, Institut Curie</addr-line>,<institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</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="af7"><addr-line>Equipe labellisée LIGUE 2008, UMR5201 CNRS</addr-line>,<institution>Centre Léon Bérard, Université de Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:aff id="af6"><addr-line>INSERM U509, Service de Génétique Oncologique, Institut Curie</addr-line>,<institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><nlm:aff id="af8"><addr-line>Department of Pathology</addr-line>,<institution>Family Cancer Clinic, The Netherlands Cancer Institute</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="af9"><addr-line>Department of Medical Oncology</addr-line>,<institution>Rotterdam Family Cancer Clinic</institution>,<addr-line>Erasmus</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J" sort="Ligtenberg, Marjolijn J" uniqKey="Ligtenberg M" first="Marjolijn J." last="Ligtenberg">Marjolijn J. Ligtenberg</name><affiliation><nlm:aff id="af10"><addr-line>Department of Human Genetics</addr-line>,<institution>Radboud University Medical Center</institution>,<addr-line>Nijmegen</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><nlm:aff id="af11"><institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane, QLD 4029</addr-line>,<country>Australia</country>,</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="af11"><institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane, QLD 4029</addr-line>,<country>Australia</country>,</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="af13"><addr-line>Center of Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</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="af13"><addr-line>Center of Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</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="af14"><addr-line>Institute of Medical Informatics, Statistics and Epidemiology</addr-line>,<institution>University of Leipzig</institution>,<addr-line>Leipzig</addr-line>,<country>Germany</country>,</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="af15"><addr-line>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar</addr-line>,<institution>Technical University</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</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 wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zikan, Michal" sort="Zikan, Michal" uniqKey="Zikan M" first="Michal" last="Zikan">Michal Zikan</name><affiliation><nlm:aff id="af18"><addr-line>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine</addr-line>,<institution>Charles University</institution>,<addr-line>Prague</addr-line>,<country>Czech Republic</country>,</nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="af19"><addr-line>Department of Cancer Epidemiology and Genetics</addr-line>,<institution>Masaryk Memorial Cancer Institute</institution>,<addr-line>Brno</addr-line>,<country>Czech Republic</country>,</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="af20"><addr-line>Center for Medical Genetics</addr-line>,<institution>Ghent University Hospital</institution>,<addr-line>Ghent</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name><affiliation><nlm:aff id="af21"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><nlm:aff id="af21"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="af22"><addr-line>Program in Molecular and Genetic Epidemiology</addr-line>,<institution>Harvard School of Public Health</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af23"><institution>Brigham and Women's Hospital and Harvard Medical School</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="af24"><addr-line>Advanced Technology Center</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Gaithersburg, MD</addr-line>,<country>USA</country></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20418484</idno><idno type="pmc">2893806</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893806</idno><idno type="RBID">PMC:2893806</idno><idno type="doi">10.1093/hmg/ddq174</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001880</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001880</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers</title><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pankratz, V Shane" sort="Pankratz, V Shane" uniqKey="Pankratz V" first="V. Shane" last="Pankratz">V. Shane Pankratz</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</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="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tarrell, Robert" sort="Tarrell, Robert" uniqKey="Tarrell R" first="Robert" last="Tarrell">Robert Tarrell</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Karaus, Mary" sort="Karaus, Mary" uniqKey="Karaus M" first="Mary" last="Karaus">Mary Karaus</name><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pharaoh, Paul D P" sort="Pharaoh, Paul D P" uniqKey="Pharaoh P" first="Paul D. P." last="Pharaoh">Paul D. P. Pharaoh</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Ponder, Bruce A J" sort="Ponder, Bruce A J" uniqKey="Ponder B" first="Bruce A. J." last="Ponder">Bruce A. J. Ponder</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="af4"><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><nlm:aff wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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="af5"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</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="af6"><addr-line>INSERM U509, Service de Génétique Oncologique, Institut Curie</addr-line>,<institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</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="af7"><addr-line>Equipe labellisée LIGUE 2008, UMR5201 CNRS</addr-line>,<institution>Centre Léon Bérard, Université de Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:aff id="af6"><addr-line>INSERM U509, Service de Génétique Oncologique, Institut Curie</addr-line>,<institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><nlm:aff id="af8"><addr-line>Department of Pathology</addr-line>,<institution>Family Cancer Clinic, The Netherlands Cancer Institute</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="af9"><addr-line>Department of Medical Oncology</addr-line>,<institution>Rotterdam Family Cancer Clinic</institution>,<addr-line>Erasmus</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J" sort="Ligtenberg, Marjolijn J" uniqKey="Ligtenberg M" first="Marjolijn J." last="Ligtenberg">Marjolijn J. Ligtenberg</name><affiliation><nlm:aff id="af10"><addr-line>Department of Human Genetics</addr-line>,<institution>Radboud University Medical Center</institution>,<addr-line>Nijmegen</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name><affiliation><nlm:aff id="af11"><institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane, QLD 4029</addr-line>,<country>Australia</country>,</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="af11"><institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane, QLD 4029</addr-line>,<country>Australia</country>,</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="af13"><addr-line>Center of Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</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="af13"><addr-line>Center of Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</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="af14"><addr-line>Institute of Medical Informatics, Statistics and Epidemiology</addr-line>,<institution>University of Leipzig</institution>,<addr-line>Leipzig</addr-line>,<country>Germany</country>,</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="af15"><addr-line>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar</addr-line>,<institution>Technical University</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af16"><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</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="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</nlm:aff></affiliation></author><author><name sortKey="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name><affiliation><nlm:aff id="af17"><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</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 wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zikan, Michal" sort="Zikan, Michal" uniqKey="Zikan M" first="Michal" last="Zikan">Michal Zikan</name><affiliation><nlm:aff id="af18"><addr-line>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine</addr-line>,<institution>Charles University</institution>,<addr-line>Prague</addr-line>,<country>Czech Republic</country>,</nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="af19"><addr-line>Department of Cancer Epidemiology and Genetics</addr-line>,<institution>Masaryk Memorial Cancer Institute</institution>,<addr-line>Brno</addr-line>,<country>Czech Republic</country>,</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="af20"><addr-line>Center for Medical Genetics</addr-line>,<institution>Ghent University Hospital</institution>,<addr-line>Ghent</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name><affiliation><nlm:aff id="af21"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><nlm:aff id="af21"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="af22"><addr-line>Program in Molecular and Genetic Epidemiology</addr-line>,<institution>Harvard School of Public Health</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af23"><institution>Brigham and Women's Hospital and Harvard Medical School</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="af24"><addr-line>Advanced Technology Center</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Gaithersburg, MD</addr-line>,<country>USA</country></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af3"><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line></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 wicri:cut=" and" id="af1"><addr-line>Department of Laboratory Medicine and Pathology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for <italic>BRCA1</italic> and <italic>BRCA2</italic> may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (<italic>P</italic> < 1 × 10<sup>−3</sup>) in two breast cancer GWAS studies were genotyped in 3451 <italic>BRCA1</italic> and 2006 <italic>BRCA2</italic> mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in <italic>BRCA1</italic> carriers and 12 SNPs in <italic>BRCA2</italic> carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (<italic>P</italic><sub>trend</sub> < 0.01). The minor alleles of rs6138178 in <italic>SNRPB</italic> and rs6602595 in <italic>CAMK1D</italic> displayed the strongest associations in <italic>BRCA1</italic> carriers (HR = 0.78, 95% CI: 0.69–0.90, <italic>P</italic><sub>trend</sub> = 3.6 × 10<sup>−4</sup> and HR = 1.25, 95% CI: 1.10–1.41, <italic>P</italic><sub>trend</sub> = 4.2 × 10<sup>−4</sup>), whereas rs9393597 in <italic>LOC134997</italic> and rs12652447 in <italic>FBXL7</italic> showed the strongest associations in <italic>BRCA2</italic> carriers (HR = 1.55, 95% CI: 1.25–1.92, <italic>P</italic><sub>trend</sub> = 6 × 10<sup>−5</sup> and HR = 1.37, 95% CI: 1.16–1.62, <italic>P</italic><sub>trend</sub> = 1.7 × 10<sup>−4</sup>). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title-group><journal-title>Human Molecular Genetics</journal-title></journal-title-group><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20418484</article-id><article-id pub-id-type="pmc">2893806</article-id><article-id pub-id-type="doi">10.1093/hmg/ddq174</article-id><article-id pub-id-type="publisher-id">ddq174</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Articles</subject></subj-group></article-categories><title-group><article-title>Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>V. Shane</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Fredericksen</surname><given-names>Zachary</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Tarrell</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Karaus</surname><given-names>Mary</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Pharaoh</surname><given-names>Paul D.P.</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Ponder</surname><given-names>Bruce A.J.</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Dunning</surname><given-names>Alison M.</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Peock</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Cook</surname><given-names>Margaret</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Oliver</surname><given-names>Clare</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Frost</surname><given-names>Debra</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><collab>EMBRACE</collab><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name><xref 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rid="af13">13</xref></contrib><contrib contrib-type="author"><name><surname>Engel</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="af14">14</xref></contrib><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name><xref ref-type="aff" rid="af15">15</xref></contrib><contrib contrib-type="author"><name><surname>Domchek</surname><given-names>Susan M.</given-names></name><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine L.</given-names></name><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Gschwantler-Kaulich</surname><given-names>Daphne</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Dressler</surname><given-names>Catherina</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Fink</surname><given-names>Anneliese</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla I.</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Zikan</surname><given-names>Michal</given-names></name><xref ref-type="aff" rid="af18">18</xref></contrib><contrib contrib-type="author"><name><surname>Foretova</surname><given-names>Lenka</given-names></name><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Claes</surname><given-names>Kathleen</given-names></name><xref ref-type="aff" rid="af20">20</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Gilles</given-names></name><xref ref-type="aff" rid="af21">21</xref></contrib><contrib contrib-type="author"><name><surname>Hoover</surname><given-names>Robert N.</given-names></name><xref ref-type="aff" rid="af21">21</xref></contrib><contrib contrib-type="author"><name><surname>Hunter</surname><given-names>David J.</given-names></name><xref ref-type="aff" rid="af22">22</xref><xref ref-type="aff" rid="af23">23</xref></contrib><contrib contrib-type="author"><name><surname>Chanock</surname><given-names>Stephen J.</given-names></name><xref ref-type="aff" rid="af24">24</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Department of Laboratory Medicine and Pathology</addr-line> and</aff><aff id="af2"><label>2</label><addr-line>Health Sciences Research</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</aff><aff id="af3"><label>3</label><addr-line>Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit</addr-line> and</aff><aff id="af4"><label>4</label><addr-line>Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</aff><aff id="af5"><label>5</label><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af6"><label>6</label><addr-line>INSERM U509, Service de Génétique Oncologique, Institut Curie</addr-line>,<institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af7"><label>7</label><addr-line>Equipe labellisée LIGUE 2008, UMR5201 CNRS</addr-line>,<institution>Centre Léon Bérard, Université de Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af8"><label>8</label><addr-line>Department of Pathology</addr-line>,<institution>Family Cancer Clinic, The Netherlands Cancer Institute</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af9"><label>9</label><addr-line>Department of Medical Oncology</addr-line>,<institution>Rotterdam Family Cancer Clinic</institution>,<addr-line>Erasmus</addr-line>,<country>The Netherlands</country>,</aff><aff id="af10"><label>10</label><addr-line>Department of Human Genetics</addr-line>,<institution>Radboud University Medical Center</institution>,<addr-line>Nijmegen</addr-line>,<country>The Netherlands</country>,</aff><aff id="af11"><label>11</label><institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane, QLD 4029</addr-line>,<country>Australia</country>,</aff><aff id="af12"><label>12</label><addr-line>kConFab (Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer)</addr-line>,<institution>Peter MacCallum Cancer Institute</institution>,<addr-line>Melbourne, VIC 3002</addr-line>,<country>Australia</country>,</aff><aff id="af13"><label>13</label><addr-line>Center of Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</aff><aff id="af14"><label>14</label><addr-line>Institute of Medical Informatics, Statistics and Epidemiology</addr-line>,<institution>University of Leipzig</institution>,<addr-line>Leipzig</addr-line>,<country>Germany</country>,</aff><aff id="af15"><label>15</label><addr-line>Department of Obstetrics and Gynaecology, Klinikum rechts der Isar</addr-line>,<institution>Technical University</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</aff><aff id="af16"><label>16</label><institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</aff><aff id="af17"><label>17</label><institution>Medical University of Vienna</institution>,<addr-line>Vienna</addr-line>,<country>Austria</country>,</aff><aff id="af18"><label>18</label><addr-line>Department of Biochemistry and Experimental Oncology, First Faculty of Medicine</addr-line>,<institution>Charles University</institution>,<addr-line>Prague</addr-line>,<country>Czech Republic</country>,</aff><aff id="af19"><label>19</label><addr-line>Department of Cancer Epidemiology and Genetics</addr-line>,<institution>Masaryk Memorial Cancer Institute</institution>,<addr-line>Brno</addr-line>,<country>Czech Republic</country>,</aff><aff id="af20"><label>20</label><addr-line>Center for Medical Genetics</addr-line>,<institution>Ghent University Hospital</institution>,<addr-line>Ghent</addr-line>,<country>Belgium</country>,</aff><aff id="af21"><label>21</label><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country>,</aff><aff id="af22"><label>22</label><addr-line>Program in Molecular and Genetic Epidemiology</addr-line>,<institution>Harvard School of Public Health</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</aff><aff id="af23"><label>23</label><institution>Brigham and Women's Hospital and Harvard Medical School</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country> and</aff><aff id="af24"><label>24</label><addr-line>Advanced Technology Center</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Gaithersburg, MD</addr-line>,<country>USA</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: <addr-line>Department of Laboratory Medicine and Pathology</addr-line>, <institution>Mayo Clinic College of Medicine</institution>, <addr-line>200 First Street SW, Rochester, MN 55905</addr-line>, <country>USA</country>. Tel: <phone>+1 5072843623</phone>; Fax: <fax>+1 5075381937</fax>; Email: <email>couch.fergus@mayo.edu</email></corresp></author-notes><pub-date pub-type="ppub"><day>15</day><month>7</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>23</day><month>4</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>7</month><year>2011</year></pub-date><pmc-comment> PMC Release delay is 12 months and 0 days and was based on the
<volume>19</volume><issue>14</issue><fpage>2886</fpage><lpage>2897</lpage><history><date date-type="received"><day>8</day><month>2</month><year>2010</year></date><date date-type="accepted"><day>21</day><month>4</month><year>2010</year></date></history><permissions><copyright-statement>© The Author 2010. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</copyright-statement><copyright-year>2010</copyright-year></permissions><abstract><p>Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for <italic>BRCA1</italic> and <italic>BRCA2</italic> may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (<italic>P</italic> < 1 × 10<sup>−3</sup>) in two breast cancer GWAS studies were genotyped in 3451 <italic>BRCA1</italic> and 2006 <italic>BRCA2</italic> mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in <italic>BRCA1</italic> carriers and 12 SNPs in <italic>BRCA2</italic> carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (<italic>P</italic><sub>trend</sub> < 0.01). The minor alleles of rs6138178 in <italic>SNRPB</italic> and rs6602595 in <italic>CAMK1D</italic> displayed the strongest associations in <italic>BRCA1</italic> carriers (HR = 0.78, 95% CI: 0.69–0.90, <italic>P</italic><sub>trend</sub> = 3.6 × 10<sup>−4</sup> and HR = 1.25, 95% CI: 1.10–1.41, <italic>P</italic><sub>trend</sub> = 4.2 × 10<sup>−4</sup>), whereas rs9393597 in <italic>LOC134997</italic> and rs12652447 in <italic>FBXL7</italic> showed the strongest associations in <italic>BRCA2</italic> carriers (HR = 1.55, 95% CI: 1.25–1.92, <italic>P</italic><sub>trend</sub> = 6 × 10<sup>−5</sup> and HR = 1.37, 95% CI: 1.16–1.62, <italic>P</italic><sub>trend</sub> = 1.7 × 10<sup>−4</sup>). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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