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Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022

Hassanin Emadeldin, May Patrick, Aldisi Rana, Spier Isabel, Forstner Andreas J, Nöthen Markus M, Aretz Stefan, Krawitz Peter, Bobbili Dheeraj Reddy, Maj Carlo

Abstract excerpt

PURPOSE: We aimed to investigate to what extent polygenic risk scores (PRS), rare pathogenic germline variants (PVs), and family history jointly influence breast cancer and prostate cancer risk. METHODS: A total of 200,643 individuals from the UK Biobank were categorized as follows: (1) heterozygotes or nonheterozygotes for PVs in moderate to high-risk cancer genes, (2) PRS strata, and (3) with or without a...

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PMID: 34906469
DOI: 10.1016/j.gim.2021.11.009

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