BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

ABSTRACT:

Background

A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.

Aim

To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.

Methods

We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.

Results

We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms w

SUBMITTER: Akilzhanova AR 

PROVIDER: S-EPMC5927761 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature