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 : 007109 ( Main/Curation ); précédent : 007108; suivant : 007110Common 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 [Royaume-Uni] ; Bruce A. J. Ponder [Royaume-Uni] ; Alison M. Dunning [Royaume-Uni] ; Susan Peock ; Margaret Cook ; Clare Oliver ; Debra Frost ; Olga M. Sinilnikova ; Dominique Stoppa-Lyonnet [France] ; Sylvie Mazoyer ; Claude Houdayer [France] ; 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 [États-Unis] ; Stephen J. Chanock [États-Unis] ; Douglas F. Easton ; Antonis C. Antoniou ; Fergus J. Couch [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2010-07-15.
Abstract
Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 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 BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 × 10−3) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (Ptrend < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69–0.90, Ptrend = 3.6 × 10−4 and HR = 1.25, 95% CI: 1.10–1.41, Ptrend = 4.2 × 10−4), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25–1.92, Ptrend = 6 × 10−5 and HR = 1.37, 95% CI: 1.16–1.62, Ptrend = 1.7 × 10−4). 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 BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.
Url:
- https://api.istex.fr/document/B9095787ABE72D47233C369EF1B0C472B222BCAC/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893806
DOI: 10.1093/hmg/ddq174
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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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<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="Fink, Anneliese" sort="Fink, Anneliese" uniqKey="Fink A" first="Anneliese" last="Fink">Anneliese Fink</name>
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<affiliation><wicri:noCountry code="no comma">Department of Laboratory Medicine and Pathology and</wicri:noCountry>
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<affiliation></affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Brigham and Women's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Advanced Technology Center, National Cancer Institute, Gaithersburg, MD</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
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<author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name>
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<author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
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<monogr></monogr>
<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2010-07-15">2010-07-15</date>
<biblScope unit="volume">19</biblScope>
<biblScope unit="issue">14</biblScope>
<biblScope unit="page" from="2886">2886</biblScope>
<biblScope unit="page" to="2897">2897</biblScope>
</imprint>
<idno type="ISSN">0964-6906</idno>
</series>
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<seriesStmt><idno type="ISSN">0964-6906</idno>
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<front><div type="abstract">Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 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 BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 × 10−3) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (Ptrend < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69–0.90, Ptrend = 3.6 × 10−4 and HR = 1.25, 95% CI: 1.10–1.41, Ptrend = 4.2 × 10−4), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25–1.92, Ptrend = 6 × 10−5 and HR = 1.37, 95% CI: 1.16–1.62, Ptrend = 1.7 × 10−4). 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 BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.</div>
</front>
</TEI>
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