UK-based clinical testing programme for somatic and germline BRCA1/2, ATM and CDK12 mutations in prostate cancer: first results.

ABSTRACT:

Objective

Germline BRCA2 pathogenic variants (PVs) are known to cause ~4% of prostate cancer, but other homologous repair genes, BRCA1, ATM, PALB2 and Lynch syndrome genes are also involved. Our objective was to assess the contribution of germline and somatic gene variants to prostate cancer.

Methods and analysis

We reviewed germline/tumour DNA testing from 450 localised or metastatic prostate cancer cases in NW England mainly from 2022 to 2024. ORs for additional genes used detection rates in controls from the BRIDGES study.

Results

450 cases underwent BRCA1/2 germline/somatic testing with 2 germline PVs in BRCA1 (0.4%) and 27 in BRCA2 (6.0%)-total 6.4% and 6/328 (1.8%) in ATM. There were 280 metastatic prostate cancer sample

SUBMITTER: Evans DG 

PROVIDER: S-EPMC11880781 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature