Phase II_ Prevalence of BRCA1 and BRCA2 mutations in Colombian breast cancer patients of African descent.

The large size of the BRCA1/2 genes and the diversity of the mutations described across the world make genetic testing using DNA sequencing analysis expensive and time-consuming. It has been observed that in some ethnic populations, a limited number of common mutations account for the majority of familial cases of breast and ovarian cancer. In these populations a simplified screening panel can be developed for initial mutation analyses. Only in cases where no common mutation is detected, the complete BRCA1/2 genes need to be screened. This approach to genetic testing represents a cost efficient and fast strategy compared to a complete BRCA1/2 gene screening approach, but requires prior knowledge of the mutation prevalence in the population of interest.