Frecuencia de alteraciones germinales en genes de riesgo alto/moderado para riesgo de cáncer de mama hereditario, estudio multicéntrico en población no seleccionada

Colombia is characterized by high ethnic variability and genetic compositions (Spanish, Amerindian, African) that differ from other populations. In this context, it is plausible to estimate differences in genomic profiles that confer susceptibility to the development of complex diseases such as breast cancer. A previous work developed by our research group has evaluated in 350 affected women, the BRCA1, BRCA2 and other 200 genes related to the disease. This panel had a proprietary design and the preliminary results are promising.

The pathogenic variants identified in this group of Colombian patients have demonstrated that genes other than BRCA1 and BRCA2 have a potential involvement in the molecular mechanism underlying the development of breast cancer. To date, 18% of pathogenic mutations in these genes have been identified. For this reason, this initiative intends to extend the study population with patients from Méderi in order to have an even more representative sample of the Colombian population.