Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

ABSTRACT:

Importance

RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. Understanding the homologous recombination deficiency (HRD) status of tumors from patients with germline PVs in RAD51C/D could guide therapeutic decision-making and improve survival.

Objective

To characterize the clinical and tumor characteristics of germline RAD51C/D PV carriers, including the evaluation of HRD status.

Design, setting, and participants

This retrospective cohort study included 91 index patients plus 90 relatives carrying germline RAD51C/D PV (n = 181) in Spanish hospitals from January 1, 2014, to December 31, 2021. Genomic and functional HRD biomarkers

SUBMITTER: Torres-Esquius S 

PROVIDER: S-EPMC11036141 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature