Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology ·第 20 卷 ·第 5 期 ·2011-09-15

Spurdle Amanda B, Marquart Louise, McGuffog Lesley, Healey Sue, Sinilnikova Olga, Wan Fei, Chen Xiaoqing, Beesley Jonathan, Singer Christian F, Dressler Anne-Catharine, Gschwantler-Kaulich Daphne, Blum Joanne L, Tung Nadine, Weitzel Jeff, Lynch Henry, Garber Judy, Easton Douglas F, Peock Susan, Cook Margaret, Oliver Clare T, Frost Debra, Conroy Don, Evans D Gareth, Lalloo Fiona, Eeles Ros, Izatt Louise, Davidson Rosemarie, Chu Carol, Eccles Diana, Selkirk Christina G, Daly Mary, Isaacs Claudine, Stoppa-Lyonnet Dominique, Sinilnikova Olga M, Buecher Bruno, Belotti Muriel, Mazoyer Sylvie, Barjhoux Laure, Verny-Pierre Carole, Lasset Christine, Dreyfus Hélène, Pujol Pascal, Collonge-Rame Marie-Agnès, , Rookus Matti A, Verhoef Senno, Kriege Mieke, Hoogerbrugge Nicoline, Ausems Margreet G E M, van Os Theo A, Wijnen Juul, Devilee Peter, Meijers-Heijboer Hanne E J, Blok Marinus J, Heikkinen Tuomas, Nevanlinna Heli, Jakubowska Anna, Lubinski Jan, Huzarski Tomasz, Byrski Tomasz, Durocher Francine, Couch Fergus J, Lindor Noralane M, Wang Xianshu, Thomassen Mads, Domchek Susan, Nathanson Kate, Caligo Ma, Jernström Helena, Liljegren Annelie, Ehrencrona Hans, Karlsson Per, , Ganz Patricia A, Olopade Olufunmilayo I, Tomlinson Gail, Neuhausen Susan, Antoniou Antonis C, Chenevix-Trench Georgia, Rebbeck Timothy R

摘要

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.

文献信息

期刊

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

期刊简称

Cancer Epidemiol Biomarkers Prev

ISSN

1055-9965

发表日期

2011-09-15

收录日期

2011-05-06

更新日期

2016-11-25

语言

英语

国家/地区

United States

NLM ID

9200608

外部链接

PubMed 原文查看期刊详情

分析服务

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

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