Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations

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dc.contributor.authorAguiar, Kaio Evandro Cardoso
dc.contributor.authorOliveira, Izabela De Sousa
dc.contributor.authorPaes, Amanda de Nazaré Cohen
dc.contributor.authorCoelho, Rita de Cássia Calderaro
dc.contributor.authorVinagre, Lui Wallacy Morikawa Souza
dc.contributor.authorRodrigues, Juliana Carla Gomes
dc.contributor.authorSantos, André Mauricio Ribeiro dos
dc.contributor.authorSouza, Sandro José de
dc.contributor.authorSantos, Andrea Kely Campos Ribeiro dos
dc.contributor.authorGuerreiro, João Farias
dc.contributor.authorAssumpção, Paulo Pimentel de
dc.contributor.authorSantos, Sidney Emanuel Batista dos
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.contributor.authorFernandes, Marianne Rodrigues
dc.date.accessioned2023-10-11T17:30:08Z
dc.date.available2023-10-11T17:30:08Z
dc.date.issued2023-09
dc.description.resumoGastric Cancer is a disease associated with environmental and genetic changes, becoming one of the most prevalent cancers around the world and with a high incidence in Brazil. However, despite being a highly studied neoplastic type, few efforts are aimed at populations with a unique background and genetic profile, such as the indigenous peoples of the Brazilian Amazon. Our study characterized the molecular profile of five genes associated with the risk of developing gastric cancer by sequencing the complete exome of 64 indigenous individuals belonging to 12 different indigenous populations in the Amazon. The analysis of the five genes found a total of 207 variants, of which 15 are new in our indigenous population, and among these are two with predicted high impact, present in the TTN and CDH1 genes. In addition, at least 20 variants showed a significant difference in the indigenous population in comparison with other world populations, and three are already associatively related to some type of cancer. Our study reaffirms the unique genetic profile of the indigenous population of the Brazilian Amazon and allows us to contribute to the conception of early diagnosis of complex diseases such as cancer, improving the quality of life of individuals potentially suffering from the diseasept_BR
dc.identifier.citationAGUIAR, Kaio Evandro Cardoso; OLIVEIRA, Izabela de Sousa; COHEN-PAES, Amanda de Nazaré; COELHO, Rita de Cássia Calderaro; VINAGRE, Lui Wallacy Morikawa Souza; RODRIGUES, Juliana Carla Gomes; RIBEIRO-DOS-SANTOS, André Maurício; SOUZA, Sandro José de; RIBEIRO-DOS-SANTOS, Ândrea; GUERREIRO, João Farias. Molecular Profile of Variants in CDH1, TP53, PSCA, PRKAA1, and TTN Genes Related to Gastric Cancer Susceptibility in Amazonian Indigenous Populations. Journal of Personalized Medicine, [S. l.], v. 13, n. 9, p. 1364, set. 2023. Doi: http://dx.doi.org/10.3390/jpm13091364. Disponível em: https://www.mdpi.com/2075-4426/13/9/1364. Acesso em: 11 out. 2023pt_BR
dc.identifier.doi10.3390/jpm13091364
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/54970
dc.languageenpt_BR
dc.publisherMDPI AGpt_BR
dc.rightsAttribution 3.0 Brazil*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/br/*
dc.subjectExomept_BR
dc.subjectGastric cancerpt_BR
dc.subjectGenomicspt_BR
dc.subjectIndigenous populationpt_BR
dc.titleMolecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populationspt_BR
dc.typearticlept_BR

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