BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

ABSTRACT:

Introduction

Breast cancer is the most common neoplasia of women from all over the world especially women from Colombia. 5%-10% of all cases are caused by hereditary factors, 25% of those cases have mutations in the BRCA1/BRCA2 genes.

Objective

The purpose of this study was to identify the mutations associated with the risk of familial breast and/or ovarian cancer in a population of Colombian pacific.

Methods

58 high-risk breast and/or ovarian cancer families and 20 controls were screened for germline mutations in BRCA1 and BRCA2, by Single Strand Conformation Polymorphism (SSCP) and sequencing.

Results

Four families (6.9%) were found to carry BRCA1 mutations and eight families (13.8%) had mutations in BRCA2. In BRCA1,

SUBMITTER: Cifuentes-C L 

PROVIDER: S-EPMC7141151 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature