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

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 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 and , by Single Strand Conformation Polymorphism (SSCP) and sequencing.

Results: Four families (6.9%) were found to carry mutations and eight families (13.8%) had mutations in In , we found three Variants of Uncertain Significance (VUS), of which we concluded, using tools, that c.81-12C>G and c.3119G>A (p.Ser1040Asn) are probably deleterious, and c.3083G>A (p.Arg1028His) is probably neutral. In , we found three variants of uncertain significance: two were previously described and one novel mutation. Using analysis, we concluded that c.865A>G (p.Asn289Asp) and c.6427T>C (p.Ser2143Pro) are probably deleterious and c.125A>G (p.Tyr42Cys) is probably neutral. Only one of them has previously been reported in Colombia. We also identified 13 polymorphisms (4 in and 9 in ), two of them are associated with a moderate increase in breast cancer risk ( c.1114A>C and c.8755-66T>C).

Conclusion: According to our results, the Colombian pacific population presents diverse mutational spectrum for BRCA genes that differs from the findings in other regions in the country.