Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer.

ABSTRACT:

Background

Interpreting genetic variants remains a challenge in prostate cancer (PCa). Although many annotation tools are available for prioritizing causal variants, the clinical relevance of these variants is rarely studied.

Methods

We collected a cohort study that included 274 PCa patients from June 2017 to December 2020 and sequenced 19 DNA damage repair (DDR) genes in these patients and explored the clinical consequence of these different approaches. We also examined all-cause and PCa-specific survival in DDR gene mutation carriers compared to non-carriers after androgen receptor (AR)-directed therapy.

Results

We identified 13 variants from 19 DDR genes in a total of 14 (5.1%) patients who had at least one presumed pathogenic mutation using different annotation me

SUBMITTER: Shao YJ 

PROVIDER: S-EPMC11520037 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature