Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.

ABSTRACT:

Background

Germline mutations in the ataxia telangiectasia mutated (ATM) gene occur in 0.5-1% of the overall population and are associated with tumour predisposition. The clinical and pathological features of ATM-mutated prostate cancer (PC) are poorly defined but have been associated with lethal PC.

Objective

To report on the clinical characteristics including family history and clinical outcomes of a cohort of patients with advanced metastatic castration-resistant PC (CRPC) who were found to have germline ATM mutations after mutation detection by initial tumour DNA sequencing.

Design setting and participants

We acquired germline ATM mutation data by saliva next-generation sequencing from patients with ATM mutations in PC biopsies s

SUBMITTER: Grochot R 

PROVIDER: S-EPMC10240520 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature