TY - JOUR
T1 - Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers
AU - AUTHOR GROUP
AU - Spurdle, Amanda B.
AU - Marquart, Louise
AU - McGuffog, Lesley
AU - Healey, Sue
AU - Sinilnikova, Olga
AU - Wan, Fei
AU - Chen, Xiaoqing
AU - Beesley, Jonathan
AU - Singer, Christian F.
AU - Dressler, Anne-Catharine
AU - Gschwantler-Kaulich, Daphne
AU - Blum, Joanne L.
AU - Tung, Nadine
AU - Weitzel, Jeff
AU - Lynch, Henry
AU - Garber, Judy
AU - Easton, Douglas F.
AU - Peock, Susan
AU - Cook, Margaret
AU - Oliver, Clare T.
AU - Frost, Debra
AU - Conroy, Don
AU - Evans, D. Gareth
AU - Lalloo, Fiona
AU - Eeles, Ros
AU - Izatt, Louise
AU - Davidson, Rosemarie
AU - Chu, Carol
AU - Eccles, Diana
AU - Selkirk, Christina G.
AU - Daly, Mary
AU - Isaacs, Claudine
AU - Stoppa-Lyonnet, Dominique
AU - Sinilnikova, Olga M.
AU - Buecher, Bruno
AU - Belotti, Muriel
AU - Mazoyer, Sylvie
AU - Barjhoux, Laure
AU - Verny-Pierre, Carole
AU - Lasset, Christine
AU - Dreyfus, Hélène
AU - Pujol, Pascal
AU - Collonge-Rame, Marie-Agnès
AU - Rookus, Matti A.
AU - Verhoef, Senno
AU - Kriege, Mieke
AU - Hoogerbrugge, Nicoline
AU - Ausems, Margreet G. E. M.
AU - van Os, Theo A.
AU - Meijers-Heijboer, Hanne E. J.
AU - van Wijnen, J.
AU - Devilee, P.
AU - Blok, M.J.
AU - Heikkinen, T.
AU - Nevanlinna, H.
AU - Jakubowska, A.
AU - Lubinski, J.
AU - Huzarski, T.
AU - Byrski, T.
AU - Durocher, F.
AU - Couch, F.J.
AU - Lindor, N.M.
AU - Wang, X.S.
AU - Thomassen, M.
AU - Domchek, S.
AU - Nathanson, K.
AU - Caligo, M.A.
AU - Jernstrom, H.
AU - Liljegren, A.
AU - Ehrencrona, H.
AU - For, P.K.
AU - Ganz, P.A.
AU - Olopade, O.I.
AU - Tomlinson, G.
AU - Neuhausen, S.
AU - Antoniou, A.C.
AU - Chenevix-Trench, G.
AU - Rebbeck, T.R.
PY - 2011
Y1 - 2011
N2 - Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk
AB - Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk
U2 - https://doi.org/10.1158/1055-9965.EPI-10-0909
DO - https://doi.org/10.1158/1055-9965.EPI-10-0909
M3 - Article
C2 - 21393566
SN - 1055-9965
VL - 20
SP - 1032
EP - 1038
JO - Cancer epidemiology, biomarkers & prevention
JF - Cancer epidemiology, biomarkers & prevention
IS - 5
ER -