Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.

doi:10.1093/jnci/djw302

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Article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.

Journal of the National Cancer Institute - 1 Jul 2017

Kuchenbaecker Karoline B, McGuffog Lesley, Barrowdale Daniel, Lee Andrew, Soucy Penny, Dennis Joe, Domchek Susan M, Robson Mark, Spurdle Amanda B, Ramus Susan J, Mavaddat Nasim, Terry Mary Beth, Neuhausen Susan L, Schmutzler Rita Katharina, Simard Jacques, Pharoah Paul D P, Offit Kenneth, Couch Fergus J, Chenevix-Trench Georgia, Easton Douglas F, Antoniou Antonis C

Abstract excerpt

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...

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Identifiers

PMID: 28376175
DOI: 10.1093/jnci/djw302
PMCID: PMC5408990

Genes

BRCA2
BRCA1

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