Article
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.
JAMA network open - 1 Jul 2020
Gallagher Shannon, Hughes Elisha, Wagner Susanne, Tshiaba Placede, Rosenthal Eric, Roa Benjamin B, Kurian Allison W, Domchek Susan M, Garber Judy, Lancaster Johnathan, Weitzel Jeffrey N, Gutin Alexander, Lanchbury Jerry S, Robson Mark
Abstract excerpt
Importance: To date, few studies have examined the extent to which polygenic single-nucleotide variation (SNV) (formerly single-nucleotide polymorphism) scores modify risk for carriers of pathogenic variants (PVs) in breast cancer susceptibility genes. In previous reports, polygenic risk modification was reduced for BRCA1 and BRCA2 PV carriers compared with noncarriers, but limited information is available for...
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