Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

ABSTRACT:

Background

Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes.

Objective

To precisely estimate the contribution of germline ATM mutations to PrCa risk.

Design, setting, and participants

We analysed next-generation sequencing data from 13 PRACTICAL study groups comprising 5560 cases and 3353 controls of European ancestry.

Outcome measurements and statistical analysis

Variant Call Format files were harmonised, annotated for rare ATM variants, and classified as tier 1 (likely pathogenic) or tier 2 (potentially deleterious). Associations with overall PrCa risk and clinical subtypes were estimated.

Results and limitations

PrCa risk was high

SUBMITTER: Karlsson Q 

PROVIDER: S-EPMC8381233 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature