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To assess the contribution of rare coding germline genetic variants to prostate cancer risk and severity, we perform here a meta-analysis of 37,184 prostate cancer cases and 331,329 male controls from five cohorts with germline whole exome or genome sequencing data, and one cohort with imputed array data. At the gene level, our case-control collapsing analysis confirms associations between rare damaging variants in four genes and increased prostate cancer risk: SAMHD1, BRCA2 and ATM at the study-wide significance level (P 

Original publication

DOI

10.1038/s41467-025-56944-1

Type

Journal article

Journal

Nat Commun

Publication Date

19/02/2025

Volume

16

Keywords

Humans, Male, Prostatic Neoplasms, Germ-Line Mutation, Checkpoint Kinase 2, Genetic Predisposition to Disease, Ataxia Telangiectasia Mutated Proteins, Case-Control Studies, BRCA2 Protein, Telomerase, Exome Sequencing, Mutation, Missense