BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia

摘要: Abstract Objective The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Colombia has not yet been explored. Five founder have identified two previous studies breast patients the Bogota region [1,2]. It is important that frequency be established among unselected cases order estimate genetic burden this plan preventive services. Methods We enrolled 100 women with from region, northern southern central regions Colombia. A detailed family history was obtained each patient a blood sample processed for DNA analysis. quality adequate BRCA testing 96 women. Mutations were sought using Hispanic mutation panel. All confirmed by direct sequencing. Results Fifteen (two thirteen ) representing 15.6% total (95% CI: 7.8% 21.3%). Among 15 mutation-positive families there nine breast-ovarian families, one gastric family, prostate three uterine no cancer. single (3450del4) seen 11 patients. Conclusion In summary, are common Colombian Approximately 11.5% all attributable mutation.