1. Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon
- Author
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Jéssyca Amanda Gomes Medeiros, Paulo Pimentel Assumpção, Sidney Santos, Marta Solange Camarinha Ramos Costa, Sandro J. de Souza, Juliana Carla Gomes Rodrigues, Rommel Mario Rodriguez Burbano, Ândrea Ribeiro-dos-Santos, Marianne Rodrigues Fernandes, José Eduardo Kroll, Elizabeth Ayres Fragoso Dobbin, João Farias Guerreiro, and Ney Pereira Carneiro dos Santos
- Subjects
0301 basic medicine ,endocrine system diseases ,medicine.disease_cause ,0302 clinical medicine ,Gene Frequency ,Native Americans ,skin and connective tissue diseases ,Genetics (clinical) ,Hereditary breast cancer ,Genetics ,Mutation ,education.field_of_study ,Amazon rainforest ,BRCA1 Protein ,hereditary breast cancer ,BRCA1 ,030220 oncology & carcinogenesis ,geographic locations ,BRCA2 ,Brazil ,Genotype ,lcsh:QH426-470 ,Population ,Breast Neoplasms ,Biology ,Indigenous populations ,Article ,03 medical and health sciences ,Germline mutation ,Breast cancer ,Population Groups ,parasitic diseases ,medicine ,Humans ,Genetic Predisposition to Disease ,1000 Genomes Project ,education ,Gene ,Allele frequency ,Alleles ,Germ-Line Mutation ,BRCA2 Protein ,indigenous populations ,Native americans ,medicine.disease ,lcsh:Genetics ,030104 developmental biology - Abstract
Estimates show that 5&ndash, 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.
- Published
- 2021