Identification of variants (rs11571707, rs144848, and rs11571769) in the BRCA2 gene associated with hereditary breast cancer in indigenous populations of the brazilian Amazon

• Autor(a) principal: Dobbin, Elizabeth Ayres Fragoso
• Data de Publicação: 2021
• Outros Autores: Medeiros, Jéssyca Amanda Gomes, Costa, Marta Solange Camarinha Ramos, Rodrigues, Juliana Carla Gomes, Guerreiro, João Farias, Kroll, José Eduardo, Souza, Sandro José de, Assumpção, Paulo Pimentel de, Ribeiro-dos-Santos, Ândrea, Santos, Sidney Emanuel Batista dos, Burbano, Rommel Mario Rodríguez, Fernandes, Marianne Rodrigues, Santos, Ney Pereira Carneiro dos
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRN
• Texto Completo: https://repositorio.ufrn.br/handle/123456789/32797; https://doi.org/10.3390/genes12020142
• topic: Hereditary breast cancer; BRCA1; BRCA2; Indigenous populations; Native americans; Brazil

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