Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.

ABSTRACT:

Background

Breast cancer is the most common cancer among women worldwide. Here, we report the prevalence of BRCA1/2 mutations in patients with high-risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of BRCA1/2 mutations in Chinese patients with hereditary breast cancer.

Methods

According to the criteria, index patients from a total of 245 independent families were initially recruited. All 49 exons of BRCA1 and BRCA2 and adjacent noncoding regions were screened for mutations based on next-generation sequencing from collected saliva.

Results

We detected 17 BRCA1/2 variants in 18 of 216 (8.3%) index patients with high-risk breast cancer. Among these, seven mutations were novel, including four BRCA1 mutations

SUBMITTER: Wang X 

PROVIDER: S-EPMC6565549 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature