Main Article Content

Authors

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, we found three Variants of Uncertain Significance (VUS), of which we concluded, using in silico tools, that c.81­12C>G and c.3119G>A (p.Ser1040Asn) are probably deleterious, and c.3083G>A (p.Arg1028His) is probably neutral. In BRCA2, we found three variants of uncertain significance: two were previously described and one novel mutation. Using in silico 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 BRCA1 and 9 in BRCA2), two of them are associated with a moderate increase in breast cancer risk (BRCA2 c.1114A>C and c.8755­66T>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.

Laura Cifuentes-C, Human Molecular Genetics Lab, Departamento de Biología, Universidad del Valle

Universidad del Valle, Departamento de Biología, Human Molecular Genetics Lab, Cali, Colombia

AAA_orcid_id18.png https://orcid.org/0000-0001-7013-1952

 

Ana Lucia Rivera-Herrera, Human Molecular Genetics Lab, Departamento de Biología, Universidad del Valle

Universidad del Valle, Departamento de Biología, Human Molecular Genetics Lab, Cali, Colombia

Guillermo Barreto, Human Molecular Genetics Lab, Departamento de Biología, Universidad del Valle

Universidad del Valle, Departamento de Biología, Human Molecular Genetics Lab, Cali, Colombia

AAA_orcid_id19.png https://orcid.org/0000-0003-2568-2629

Cifuentes-C, L., Rivera-Herrera, A. L., & Barreto, G. (2024). BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia. Colombia Medica, 50(3), 163–75. https://doi.org/10.25100/cm.v50i3.2385

Downloads

Download data is not yet available.
Received 2016-07-01
Accepted 2019-12-12
Published 2024-05-22