Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.

ABSTRACT:

Purpose

Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data in a population-based case-control study conducted in Shanghai, China.

Methods

We evaluated exonic, splicing, and copy number variants in 11 established and 14 candidate breast cancer predisposition genes in 831 invasive breast cancer cases and 839 controls. We identified 55 pathogenic variants, including 15 newly identified in this study.

Results

Approximately 8% of the cases and 0.6% of the cancer-free controls carried these pathogenetic variants (P = 3.05 × 10^-15). Among cases, 3.7% had a BRCA2 pathogenic

SUBMITTER: Zeng C 

PROVIDER: S-EPMC7188717 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature