Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.

ABSTRACT:

Purpose

The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of studied families. In Colombia mutations in these genes have been mainly studied on patients from Andean region. Bogotá and Medellin presented its own battery of mutations. This study aims to identify mutations in BRCA1-2 genes in women with familial breast cancer from different regions of Colombia.

Methods

One hundred four families with a history of breast cancer were sampled in different regions of Colombia, and the BRCA1 gene and exon 11 of the BRCA2 gene were sequenced. To predict the possible effects of sequence alterations found in protein function, differ

SUBMITTER: Cortes C 

PROVIDER: S-EPMC6631644 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature