Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.

ABSTRACT:

Background

Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 (gBRCA1/2) are associated with elevated risk of breast cancer in young women in Asia. BRCA1 and BRCA2 proteins contribute to genomic stability through homologous recombination (HR)-mediated double-strand DNA break repair in cooperation with other HR-related proteins. In this study, we analyzed the targeted sequencing data of Korean breast cancer patients with gBRCA1/2 mutations to investigate the alterations in HR-related genes and their clinical implications.

Materials and methods

Data of the breast cancer patients with pathogenic gBRCA1/2 mutations and qualified targeted next-generation sequencing, SNUH FiRST cancer panel, were analyzed. Single nucleotide polymorphisms, small insertions, and

SUBMITTER: Kim J 

PROVIDER: S-EPMC9817339 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature