Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

ABSTRACT:

Purpose

We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.

Methods

In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated.

Results

Sixty-three mutation carriers (13.2%) were identified with BRCA1 mutations (6.3%) and BRCA2 mutations (6.9%), respectively. Mutation frequency was affected by familial and personal factors. Breast cancer patients with family history of breast and ovarian ca

SUBMITTER: Park B 

PROVIDER: S-EPMC5387004 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature