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

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dc.contributor.advisor1SANTOS, Ney Pereira Carneiro dos
dc.contributor.advisor1Latteshttp://lattes.cnpq.br/1290427033107137pt_BR
dc.contributor.advisor1ORCIDhttps://orcid.org/0000-0001-8087-7037pt_BR
dc.creatorDOBBIN, Elizabeth Ayres Fragoso
dc.creatorMEDEIROS, Jéssyca Amanda Gomes
dc.creator.Latteshttp://lattes.cnpq.br/6305888948306583pt_BR
dc.creator.Latteshttp://lattes.cnpq.br/6030412414707735pt_BR
dc.creator.ORCIDhttps://orcid.org/0000-0003-1838-5298pt_BR
dc.date.accessioned2023-08-31T13:07:50Z
dc.date.available2023-08-31T13:07:50Z
dc.date.issued2021
dc.description.abstractEstimates 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.pt_BR
dc.identifier.citationDOBBIN, Elizabeth Ayres Fragoso; MEDEIROS, Jéssyca Amanda Gomes. Identification of variants (rs11571707, rs144848, and rs11571769) in the BRCA2 gene associated with hereditary breast cancer in indigenous populations of the brazilian Amazon. Genes 2021. [S. l.], v. 12, n. 142, p. 1-11, jan. 2021. Disponível em: https://bdm.ufpa.br:8443/jspui/handle/prefix/6078. Acesso em: .pt_BR
dc.identifier.urihttps://bdm.ufpa.br/handle/prefix/6078
dc.rightsAcesso Abertopt_BR
dc.source.uriDisponível na Internet via correio eletrônico: bibsaude@ufpa.brpt_BR
dc.subjectHereditary breast cancerpt_BR
dc.subjectBRCA1pt_BR
dc.subjectBRCA2pt_BR
dc.subjectIndigenous populationspt_BR
dc.subjectNative americanspt_BR
dc.subjectBrazilpt_BR
dc.subject.cnpqCNPQ::CIENCIAS DA SAUDE::MEDICINA::CLINICA MEDICA::CANCEROLOGIApt_BR
dc.titleIdentification of variants (rs11571707, rs144848, and rs11571769) in the BRCA2 gene associated with hereditary breast cancer in indigenous populations of the brazilian Amazonpt_BR
dc.typeTrabalho de Curso - Graduação - Artigopt_BR

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Faculdade de Medicina - FAMED/ICM
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