Profiling of the germline mutation BRCA1: p.Ile1845fs in a large cohort of Han Chinese breast cancer.

ABSTRACT:

Background

Breast cancer is a one of the malignant carcinomas partially caused by genetic risk factors. Germline BRCA1 gene mutations are reportedly associated with breast cancers. Identification of BRCA1 mutations greatly improves the preventive strategies and management of breast cancer. The aim of our study was to investigate the frequency of the deleterious BRCA1: p.Ile1845fs variant in breast carcinomas, as well as the correlation between p.Ile1845fs variant with clinicopathological parameters and clinical outcomes.

Results

A total of 23,481 clinically high-risk patients with breast cancer and 6489 healthy controls were recruited for p.Ile1845fs variant sequencing (either sanger or next generation sequencing). We identified 94 breast cancer patients

SUBMITTER: Wu Y 

PROVIDER: S-EPMC6937991 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature