期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020
卷 21, 期 -, 页码 373-412出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-083118-015253
关键词
BRCA1; BRCA2; Ashkenazi Jews; population screening; disease prevention; breast cancer
资金
- Breast Cancer Research Foundation
The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the BRCA1 and BRCA2 genes, fulfills classical disease screening criteria. This is especially true for BRCA1 and BRCA2 in Ashkenazi Jews but is translatable to all populations and may include additional genes. Utilizing genetic information for large-scale precision prevention requires a paradigmatic shift in health-care delivery. To address this need, we propose a direct-to-patient model, which is increasingly pertinent for fulfilling the promise of utilizing personal genomic information for disease prevention.
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