Study on mutations in BRCA1 and 2 genes

A Brazilian study, published in Scientific Reports, analyzed the profile of existing mutations in the BRCA1 and BRCA2 genes. Through this study it was possible to confirm the heterogeneity of the molecules of the genes and that certain patterns of recurrent mutations may be different for each region of the country.

The objective of this research was to identify the mutation profiles in Brazil and to verify if the mapping of these mutations would be useful for the population. Data were collected from 11 Brazilian states, the majority coming from São Paulo.

Within the scope of the research, 126 variants in the BRCA1 gene and 103 in BRCA2 gene were identified, having the last one more non-recurrent mutations that appear only once. That is, the BRCA2 gene presented a greater number of different types of mutations.

In addition, certain mutations were detected in only a few regions of the country. Therefore, it is important to continue the research, to verify if this pattern applies in a larger context of people.

What is BRCA1 and BRCA2?

There are two genes responsible for DNA recovery. When there is some mutation in these genes, they cease to play this role, allowing the reproduction of cells in an uncontrolled way.

This study is important because by mapping these mutations it is possible to prescribe a more adequate treatment and to control the disease in its metastatic stage.

Source: Onconews