@article{Cifuentes-C_Rivera-Herrera_Barreto_2019, title={BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia}, volume={50}, url={https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/2385}, DOI={10.25100/cm.v50i3.2385}, abstractNote={<p><strong>Introduction</strong>: 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.<br><strong>Objective</strong>: 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.<br><strong>Methods: </strong>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.<br><strong>Results: </strong>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).<br><strong>Conclusion: </strong>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.</p>}, number={3}, journal={Colombia Medica}, author={Cifuentes-C, Laura and Rivera-Herrera, Ana Lucia and Barreto, Guillermo}, year={2019}, month={Sep.}, pages={163–75} }