Introduction: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.Objective: To identify the presence of mutations in the Colombian population and evaluate two testing strategies.Methods: From a total universe of 853 individual blood samples tests referred for BRCA1 and BRCA2 typing, 256 cases were analyzed by complete direct sequencing of both genes in Myriad Genetics, and the remaining 597 cases were studied by partial sequencing based on founder mutations in a PCR test designed by ourselves ("Profile Colombia").Results: We found 107 patients carrying deleterious mutations in this group of patients, 69 (64.5%) located in BRCA1, and 38 (35.5%) in BRCA2. Overall, we detected 39 previously unreported mutations in Colombia (22 in BRCA1 and 17 in BRCA2) and only 4 out of the 6 previously reported founder mutations. Sixty four out of 597 patients (10.7%) studied by "Profile Colombia" showed mutations in BRCA1 or BRCA2, and 41/256 patients (16%) showed mutations by complete BRCA1-BRCA2 sequencing.Conclusions: The spectrum of 44 different mutations in Colombia as detected in our study is broader than the one previously reported for this country. "Profile Colombia" is a useful screening test to establish both founder and new mutations (detection rate of 10.7%) in cases with family history of breast cancer. Complete sequencing shows a detection rate of 16.0%, and should complement the study of the genetic basis of this disease.
The characterization of mitochondrial DNA (mtDNA) allows the establishment of genetic structures and phylogenetic relationships in human populations, tracing lineages far back in time. We analysed samples of mtDNA from twenty (20) Native American populations (700 individuals) dispersed throughout Colombian territory. Samples were collected during 1989-1993 in the context of the program Expedición Humana ("Human Expedition") and stored in the Biological Repository of the Institute of Human Genetics (IGH) at the Pontificia Universidad Javeriana (Bogotá, Colombia). Haplogroups were determined by analysis of RFLPs. Most frequent was haplogroup A, with 338 individuals (48.3%). Haplogroup A is also one of the most frequent haplogroups in Mesoamerica, and we interpret our finding as supporting models that propose Chibchan-speaking groups migrated to northern Colombia from Mesoamerica in prehistoric times. Haplogroup C was found in 199 individuals (28.4%), while less frequent were B and D, with 113 and 41 (16% and 6%) individuals, respectively. The haplogroups of nine (9) individuals (1.3%) could not be determined due to the low quality of the samples of DNA. Although all the sampled populations had genetic structures that fit broadly into the patterns that might be expected for contemporary Central and South American indigenous groups, it was found that haplogroups A and B were more frequent in northern Colombia, while haplogroups C and D were more frequent in southern and south-western Colombia.
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