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 : 000769 ( Ncbi/Curation ); précédent : 000768; suivant : 000770Common 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 [États-Unis] ; Zachary Fredericksen [États-Unis] ; Robert Tarrell [États-Unis] ; Mary Karaus [États-Unis] ; Lesley Mcguffog ; Paul D. P. Pharaoh [Royaume-Uni] ; Bruce A. J. Ponder [Royaume-Uni] ; Alison M. Dunning [Royaume-Uni] ; Susan Peock ; Margaret Cook ; Clare Oliver ; Debra Frost ; Olga M. Sinilnikova [France] ; Dominique Stoppa-Lyonnet [France] ; Sylvie Mazoyer [France] ; Claude Houdayer [France] ; Frans B. L. Hogervorst [Pays-Bas] ; Maartje J. Hooning [Pays-Bas] ; Marjolijn J. Ligtenberg [Pays-Bas] ; Amanda Spurdle [Australie] ; Georgia Chenevix-Trench [Australie] ; Rita K. Schmutzler [Allemagne] ; Barbara Wappenschmidt [Allemagne] ; Christoph Engel [Allemagne] ; Alfons Meindl [Allemagne] ; Susan M. Domchek [États-Unis] ; Katherine L. Nathanson [États-Unis] ; Timothy R. Rebbeck [États-Unis] ; Christian F. Singer [Autriche] ; Daphne Gschwantler-Kaulich [Autriche] ; Catherina Dressler [Autriche] ; Anneliese Fink [Autriche] ; Csilla I. Szabo ; Michal Zikan [République tchèque] ; Lenka Foretova [République tchèque] ; Kathleen Claes [Belgique] ; Gilles Thomas [États-Unis] ; Robert N. Hoover [États-Unis] ; David J. Hunter [États-Unis] ; Stephen J. Chanock [États-Unis] ; Douglas F. Easton ; Antonis C. Antoniou ; Fergus J. Couch [États-Unis]Source :
- 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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Lesley Mcguffog<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</affiliation>
Le document en format XML
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<author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name>
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<author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name>
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<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
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<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>
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<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
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<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>
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<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
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<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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
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<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
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<country xml:lang="fr">France</country>
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<country xml:lang="fr">France</country>
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<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>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Ligtenberg, Marjolijn J" sort="Ligtenberg, Marjolijn J" uniqKey="Ligtenberg M" first="Marjolijn J." last="Ligtenberg">Marjolijn J. Ligtenberg</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>Department of Human Genetics</addr-line>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name>
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,</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name>
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,</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name>
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<country xml:lang="fr">Autriche</country>
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<author><name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name>
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<country xml:lang="fr">Autriche</country>
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<author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name>
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<author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name>
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<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name>
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<country xml:lang="fr">Belgique</country>
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</affiliation>
</author>
<author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<idno type="wicri:Area/Pmc/Curation">001739</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001739</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002623</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002623</idno>
<idno type="wicri:Area/Ncbi/Merge">000769</idno>
<idno type="wicri:Area/Ncbi/Curation">000769</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tarrell, Robert" sort="Tarrell, Robert" uniqKey="Tarrell R" first="Robert" last="Tarrell">Robert Tarrell</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Karaus, Mary" sort="Karaus, Mary" uniqKey="Karaus M" first="Mary" last="Karaus">Mary Karaus</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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 wicri:level="1"><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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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 wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Spurdle, Amanda" sort="Spurdle, Amanda" uniqKey="Spurdle A" first="Amanda" last="Spurdle">Amanda Spurdle</name>
<affiliation wicri:level="1"><nlm:aff id="af11"><institution>Queensland Institute of Medical Research</institution>
,<addr-line>Brisbane, QLD 4029</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af11"><institution>Queensland Institute of Medical Research</institution>
,<addr-line>Brisbane, QLD 4029</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>University of Pennsylvania</institution>
,<addr-line>Philadelphia, PA</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>University of Pennsylvania</institution>
,<addr-line>Philadelphia, PA</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>University of Pennsylvania</institution>
,<addr-line>Philadelphia, PA</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af17"><institution>Medical University of Vienna</institution>
,<addr-line>Vienna</addr-line>
,<country>Austria</country>
,</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af17"><institution>Medical University of Vienna</institution>
,<addr-line>Vienna</addr-line>
,<country>Austria</country>
,</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dressler, Catherina" sort="Dressler, Catherina" uniqKey="Dressler C" first="Catherina" last="Dressler">Catherina Dressler</name>
<affiliation wicri:level="1"><nlm:aff id="af17"><institution>Medical University of Vienna</institution>
,<addr-line>Vienna</addr-line>
,<country>Austria</country>
,</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name>
<affiliation wicri:level="1"><nlm:aff id="af17"><institution>Medical University of Vienna</institution>
,<addr-line>Vienna</addr-line>
,<country>Austria</country>
,</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thomas, Gilles" sort="Thomas, Gilles" uniqKey="Thomas G" first="Gilles" last="Thomas">Gilles Thomas</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Cancer Research UK Genetic Epidemiology Unit</wicri:noCountry>
</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 wicri:level="1"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
</record>
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