Barrido mutacional parcial del gen BRCA 1 en mujeres con cáncer de mama familiar.

Abstract

Cancer is a leading cause of death and also a worldwide problem public health. Breast cancer is most frequently diagnosed and the first cause of death in women. In Colombia it has been increased in the last five years, in the beginning was the third leading cause of death in women, after from cervical and stomach, to become in the first. Most of breast cancers are sporadic, nevertheless, there is a strong hereditary component to developing the disease, that 5 to 10% of all of breast cancer are related with autosomal dominant inheritance susceptibility genes, such as BRCA1 and BRCA2. The contribution of germline mutations in the BRCA1 gene in Colombia is unknown, for that reason in this study were analyzed by direct sequencing the exons 20, 21 and 22 of the BRCA1 gene in 90 families from different regions in Colombia. No mutations or altered sequences were observed in the 90 families analyzed on all three exons. We suggest realizing a screening of the entire BRCA1 and BRCA2 genes for having a full view of the mutational status of the sampled patients