期刊
CLINICAL GENETICS
卷 82, 期 2, 页码 105-114出版社
WILEY
DOI: 10.1111/j.1399-0004.2012.01859.x
关键词
BRCA1; BRCA2; breast cancer; familial; TP53
资金
- NIHR Manchester Biomedical Research Centre
Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 4085% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (2040% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50100 gene loci may be possible in the future utilizing next-generation technology.
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。
推荐
暂无数据