Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia.

ABSTRACT: Background. Breast cancer is one of the most common cancers in women worldwide. The germline mutations of the BRCA1 and BRCA2 genes are the most significant and well characterized genetic risk factors for hereditary breast cancer. Intensive research in the last decades has demonstrated that the incidence of mutations varies widely among different populations. In this study we attempted to perform a pilot study for identification and characterization of mutations in BRCA1 and BRCA2 genes among Armenian patients with family history of breast cancer and their healthy relatives.  Methods. We performed targeted exome sequencing for BRCA1 and BRCA2 genes in 6 patients and their healthy relatives. After alignment of short reads to the refere

SUBMITTER: Atshemyan S 

PROVIDER: S-EPMC5357036 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature