TY - JOUR AU - Cifuentes-C, Laura AU - Rivera-Herrera, Ana Lucia AU - Barreto, Guillermo PY - 2019/09/30 Y2 - 2024/03/28 TI - BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia JF - Colombia Medica JA - Colomb Med VL - 50 IS - 3 SE - Original Articles DO - 10.25100/cm.v50i3.2385 UR - https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/2385 SP - 163-75 AB - <p><strong>Introduction</strong>:&nbsp;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>:&nbsp;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:&nbsp;</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:&nbsp;</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&gt;G and c.3119G&gt;A (p.Ser1040Asn) are probably deleterious, and c.3083G&gt;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&gt;G (p.Asn289Asp) and c.6427T&gt;C (p.Ser2143Pro) are probably deleterious and c.125A&gt;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&gt;C and c.8755­66T&gt;C).<br><strong>Conclusion:&nbsp;</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> ER -