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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

icecream 添加于 2012-12-2 22:06 | 1393 次阅读 | 0 个评论

作者
Stevens KN, Wang X, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M, Nathanson KL, Jakubowska A, Osorio A, Hamann U, Godwin AK, Stoppa-Lyonnet D, Southey M, Buys SS, Singer CF, Hansen TVO, Arason A, Offit K, Piedmonte M, Montagna M, Imyanitov E, Tihomirova L, Sucheston L, Beattie M, Neuhausen SL, Szabo CI, Simard J, Spurdle AB, Healey S, Chen X, Rebbeck TR, Easton DF, Chenevix-Trench G, Antoniou AC, Couch FJ
摘要
Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [hazard ratio (HR) = 1.55, 95 % confidence interval (CI) 1.25-1.92, p = 6.0 x 10(-5)]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here, we report on an analysis of this variant in an additional 6,165 BRCA1 and 3,900 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for BRCA2 mutation carriers (HR = 1.09, 95 % CI 0.96-1.24, p = 0.18). No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline BRCA2 mutations.
详细资料
- 文献种类: Journal Article
- 期刊名称: Breast Cancer Research and Treatment
- 期刊缩写: Breast Cancer Res Treat
- 期卷页: 2012年第136卷第1期 295-302页
- 地址: Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
- ISBN: 0167-6806
学科领域生物医药 » 预防卫生学
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