Journal article

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, BA Agnarsson, M Ahmed, K Aittomaki, IL Andrulis, A Arason, N Arnold, B Auber, J Azzollini, J Balmana, RB Barkardottir, D Barrowdale, J Barwell, M Belotti Show all

Journal of the National Cancer Institute | Published : 2022

Abstract

Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. Methods: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk..

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