4.5 Article

The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT

期刊

CLINICAL GENETICS
卷 101, 期 3, 页码 317-323

出版社

WILEY
DOI: 10.1111/cge.14098

关键词

BRCA2; breast neoplasm; fallopian tube neoplasm; ovarian neoplasm

资金

  1. Canadian Institutes of Health Research
  2. Peter Gilgan Centre for Women's Cancers at Women's College Hospital
  3. Canadian Cancer Society

向作者/读者索取更多资源

Approximately 1% of the Ashkenazi Jewish population carries the BRCA2 6174delT pathogenic variant, which is associated with the risks of breast and ovarian cancer. Women carrying the 6174delT variant have a significantly lower annual risk for developing breast cancer compared to those carrying other variants in the BRCA2 gene, but the difference in ovarian or fallopian tube cancer risk is not significant.
Approximately 1% of the Ashkenazi Jewish population carries the BRCA2 6174delT (c.5946del) pathogenic variant. It is important to have accurate knowledge of the risks of breast and ovarian cancer associated with this specific variant so that women may be counseled accordingly. In this prospective study, we estimated the risks of breast and ovarian cancer associated with the 6174delT variant compared with the risks for other pathogenic variants in the BRCA2 gene. The annual risk for developing breast cancer was significantly lower in 246 women who carried the 6174delT variant compared with 721 non-Jewish women who carried a variant at any other locus in BRCA2 (1.2% per year vs. 2.4% per year, p = 0.003). We estimated the cumulative risk of breast cancer from age 30 to 70 to be 39% for carriers of the BRCA2 6174delT variant and 61% for carriers of other BRCA2 variants. The annual risk for ovarian or fallopian tube cancer was 0.51% per year for the 233 women who carried the 6174delT variant compared to 0.22% per year for the 1128 carriers of other BRCA2 variants; the difference was not significant. Lower risks for breast cancer associated with 6174delT may not impact screening and prevention choices, however, the discussion should be based on accurate risk assessment.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据