Characteristics of Germline and Somatic Mutations of DNA Repair Genes in Korean Men with Prostate Cancer.

ABSTRACT:

Purpose

While the association between defect of DNA damage repair (DDR) genes and prostate cancer (PCa) risk is well-established, there has been a lack of data in East Asian population. This study reports contemporary prevalence of DDR genes mutations in Korean PCa patients.

Materials and methods

We analysed samples from 1,316 patients with PCa in Korea. Whole genome sequencing and targeted cancer panel sequencing were employed for genetic analysis. A total of 26 DDR genes were analysed based on the previous literature.

Results

Germline mutation profiling was conducted in 1,026 patients, identifying 66 mutations (6.4%) at 14 genes. Somatic mutation profiling in 550 patients revealed 105 mutations (19.1%) at 15 genes. While BRCA2 was most frequent (3.4%) among germline

SUBMITTER: Lee H 

PROVIDER: S-EPMC12798357 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature