作者
Karoline B Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Penny Soucy, Joe Dennis, Susan M Domchek, Mark Robson, Amanda B Spurdle, Susan J Ramus, Nasim Mavaddat, Mary Beth Terry, Susan L Neuhausen, Rita Katharina Schmutzler, Jacques Simard, Paul DP Pharoah, Kenneth Offit, Fergus J Couch, Georgia Chenevix-Trench, Douglas F Easton, Antonis C Antoniou
发表日期
2017/7/1
期刊
JNCI: Journal of the National Cancer Institute
卷号
109
期号
7
页码范围
djw302
出版商
Oxford University Press
简介
Background
Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates.
Methods
We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]–positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association …
学术搜索中的文章
KB Kuchenbaecker, L McGuffog, D Barrowdale, A Lee… - JNCI: Journal of the National Cancer Institute, 2017