Estimates show that 5–10% of breast cancer cases are hereditary, caused by genetic
variants in autosomal dominant genes; of these, 16% are due to germline mutations in the BRCA1
and BRCA2 genes. The comprehension of the mutation profile of these genes in the Brazilian
population, particularly in Amazonian Amerindian groups, is scarce. We investigated fifteen
polymorphisms in the BRCA1 and BRCA2 genes in Amazonian Amerindians and compared the
results with the findings of global populations publicly available in the 1000 Genomes Project
database. Our study shows that three variants (rs11571769, rs144848, and rs11571707) of the BRCA2
gene, commonly associated with hereditary breast cancer, had a significantly higher allele
frequency in the Amazonian Amerindian individuals in comparison with the African, American,
European, and Asian groups analyzed. These data outline the singular genetic profiles of the
indigenous population from the Brazilian Amazon region. The knowledge about BRCA1 and
BRCA2 variants is critical to establish public policies for hereditary breast cancer screening in
Amerindian groups and populations admixed with them, such as the Brazilian population.
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