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

Página do item simplificado Estatísticas
dc.contributor.authorDobbin, Elizabeth Ayres Fragoso
dc.contributor.authorMedeiros, Jéssyca Amanda Gomes
dc.contributor.authorCosta, Marta Solange Camarinha Ramos
dc.contributor.authorRodrigues, Juliana Carla Gomes
dc.contributor.authorGuerreiro, João Farias
dc.contributor.authorKroll, José Eduardo
dc.contributor.authorSouza, Sandro José de
dc.contributor.authorAssumpção, Paulo Pimentel de
dc.contributor.authorRibeiro-dos-Santos, Ândrea
dc.contributor.authorSantos, Sidney Emanuel Batista dos
dc.contributor.authorBurbano, Rommel Mario Rodríguez
dc.contributor.authorFernandes, Marianne Rodrigues
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.date.accessioned2021-07-02T16:34:35Z
dc.date.available2021-07-02T16:34:35Z
dc.date.issued2021-01-22
dc.description.resumoEstimates 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 populationpt_BR
dc.identifier.citationDOBBIN, Elizabeth Ayres Fragoso; 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. Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon. Genes, [S.L.], v. 12, n. 2, p. 142, 22 jan. 2021. http://dx.doi.org/10.3390/genes12020142. Disponível em: https://www.mdpi.com/2073-4425/12/2/142. Acesso em: 1 jul. 2021.pt_BR
dc.identifier.doihttps://doi.org/10.3390/genes12020142
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/32797
dc.languageenpt_BR
dc.publisherMDPI AGpt_BR
dc.rightsAttribution 3.0 Brazil*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/br/*
dc.subjectHereditary breast cancerpt_BR
dc.subjectBRCA1pt_BR
dc.subjectBRCA2pt_BR
dc.subjectIndigenous populationspt_BR
dc.subjectNative americanspt_BR
dc.subjectBrazilpt_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.typearticlept_BR

Arquivos

Pacote Original

Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
Nome:
IdentificationVariantsBRCA2_Souza_2021.pdf
Tamanho:
368.25 KB
Formato:
Adobe Portable Document Format
Descrição:
IdentificationVariantsBRCA2_Souza_2021
Nenhuma Miniatura disponível
Baixar

Licença do Pacote

Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
Nome:
license.txt
Tamanho:
1.45 KB
Formato:
Item-specific license agreed upon to submission
Nenhuma Miniatura disponível
Baixar

Coleções

ICe - Artigos publicados em periódicos
Repositório Institucional - UFRN Campus Universitário Lagoa NovaCEP 59078-970 Caixa postal 1524 Natal/RN - BrasilUniversidade Federal do Rio Grande do Norte© Copyright 2025. Todos os direitos reservados.
Contato+55 (84) 3342-2260 - R232Setor de Repositórios Digitaisrepositorio@bczm.ufrn.br
DSpaceIBICT
OasisBR
LAReferencia
Customizado pela CAT - BCZM