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Background  Approximately 5% of all breast cancers can be attributed to a mutation in the  BRCA1  or  BRCA2  gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations were in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established among unselected cases of breast cancer of other regions of Colombia in order to estimate the genetic burden of this cancer in Colombia and to plan genetic services. The aim of this study was to establish the mutation frequencies of the  BRCA  genes in breast cancer patients unselected for family history or age, from Medellin, Colombia.    Methods  We enrolled 280 unselected women with breast cancer from a large public hospital in Medellin, Colombia. A detailed family history from each patient and a blood sample was obtained and processed for DNA analysis. Mutations in  BRCA1  and  BRCA2  were sought using a combination of techniques including a panel of recurrent Hispanic  BRCA  mutations which consists of fifty  BRCA1  mutations and forty-six  BRCA2  mutations, including the five recurrent Colombian  BRCA  mutations. All mutations were confirmed by direct sequencing.    Results  Genetic testing was successfully completed for 244 of the 280 cases (87%). Among the 244 cases, three deleterious mutations were identified (two in  BRCA1  and one in  BRCA2 ) representing 1.2% of the total. The average age of breast cancer in the mutation-positive cases was 34 years. The two  BRCA1  mutations were known founder mutations (3450del4 in exon 11 and A1708E in exon 18). The  BRCA2  mutation was in exon 11 (5844del5) and has not been previously reported in individuals of Colombian descent. Among the three mutation-positive families was a breast cancer family and two families with no history of breast or ovarian cancer.    Conclusion  The frequency of  BRCA  mutations in unselected breast cancer cases from the Medellin region of Colombia is low and is approximately 1.2%.

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia