Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRN |
Texto Completo: | https://repositorio.ufrn.br/handle/123456789/54970 |
Resumo: | Gastric 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 disease |
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Aguiar, Kaio Evandro CardosoOliveira, Izabela De SousaPaes, Amanda de Nazaré CohenCoelho, Rita de Cássia CalderaroVinagre, Lui Wallacy Morikawa SouzaRodrigues, Juliana Carla GomesSantos, André Mauricio Ribeiro dosSouza, Sandro José deSantos, Andrea Kely Campos Ribeiro dosGuerreiro, João FariasAssumpção, Paulo Pimentel deSantos, Sidney Emanuel Batista dosSantos, Ney Pereira Carneiro dosFernandes, Marianne Rodrigues2023-10-11T17:30:08Z2023-10-11T17:30:08Z2023-09AGUIAR, 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. 2023https://repositorio.ufrn.br/handle/123456789/5497010.3390/jpm13091364MDPI AGAttribution 3.0 Brazilhttp://creativecommons.org/licenses/by/3.0/br/info:eu-repo/semantics/openAccessExomeGastric cancerGenomicsIndigenous populationMolecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populationsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleGastric 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 diseaseengreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNORIGINALMolecularProfileVariants_Souza_2023.pdfMolecularProfileVariants_Souza_2023.pdfMolecularProfileVariants_Souza_2023application/pdf760103https://repositorio.ufrn.br/bitstream/123456789/54970/1/MolecularProfileVariants_Souza_2023.pdf209537452751dccb715a7708fb02596dMD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8914https://repositorio.ufrn.br/bitstream/123456789/54970/2/license_rdf4d2950bda3d176f570a9f8b328dfbbefMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81484https://repositorio.ufrn.br/bitstream/123456789/54970/3/license.txte9597aa2854d128fd968be5edc8a28d9MD53123456789/549702023-10-11 14:30:10.381oai:https://repositorio.ufrn.br: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Repositório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2023-10-11T17:30:10Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false |
dc.title.pt_BR.fl_str_mv |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
title |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
spellingShingle |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations Aguiar, Kaio Evandro Cardoso Exome Gastric cancer Genomics Indigenous population |
title_short |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
title_full |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
title_fullStr |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
title_full_unstemmed |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
title_sort |
Molecular profile of variants in CDH1, TP53, PSCA, PRKAA1, and TTN genes related to gastric cancer susceptibility in Amazonian indigenous populations |
author |
Aguiar, Kaio Evandro Cardoso |
author_facet |
Aguiar, Kaio Evandro Cardoso Oliveira, Izabela De Sousa Paes, Amanda de Nazaré Cohen Coelho, Rita de Cássia Calderaro Vinagre, Lui Wallacy Morikawa Souza Rodrigues, Juliana Carla Gomes Santos, André Mauricio Ribeiro dos Souza, Sandro José de Santos, Andrea Kely Campos Ribeiro dos Guerreiro, João Farias Assumpção, Paulo Pimentel de Santos, Sidney Emanuel Batista dos Santos, Ney Pereira Carneiro dos Fernandes, Marianne Rodrigues |
author_role |
author |
author2 |
Oliveira, Izabela De Sousa Paes, Amanda de Nazaré Cohen Coelho, Rita de Cássia Calderaro Vinagre, Lui Wallacy Morikawa Souza Rodrigues, Juliana Carla Gomes Santos, André Mauricio Ribeiro dos Souza, Sandro José de Santos, Andrea Kely Campos Ribeiro dos Guerreiro, João Farias Assumpção, Paulo Pimentel de Santos, Sidney Emanuel Batista dos Santos, Ney Pereira Carneiro dos Fernandes, Marianne Rodrigues |
author2_role |
author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Aguiar, Kaio Evandro Cardoso Oliveira, Izabela De Sousa Paes, Amanda de Nazaré Cohen Coelho, Rita de Cássia Calderaro Vinagre, Lui Wallacy Morikawa Souza Rodrigues, Juliana Carla Gomes Santos, André Mauricio Ribeiro dos Souza, Sandro José de Santos, Andrea Kely Campos Ribeiro dos Guerreiro, João Farias Assumpção, Paulo Pimentel de Santos, Sidney Emanuel Batista dos Santos, Ney Pereira Carneiro dos Fernandes, Marianne Rodrigues |
dc.subject.por.fl_str_mv |
Exome Gastric cancer Genomics Indigenous population |
topic |
Exome Gastric cancer Genomics Indigenous population |
description |
Gastric 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 disease |
publishDate |
2023 |
dc.date.accessioned.fl_str_mv |
2023-10-11T17:30:08Z |
dc.date.available.fl_str_mv |
2023-10-11T17:30:08Z |
dc.date.issued.fl_str_mv |
2023-09 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
AGUIAR, 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. 2023 |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufrn.br/handle/123456789/54970 |
dc.identifier.doi.none.fl_str_mv |
10.3390/jpm13091364 |
identifier_str_mv |
AGUIAR, 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. 2023 10.3390/jpm13091364 |
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https://repositorio.ufrn.br/handle/123456789/54970 |
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Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ |
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openAccess |
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MDPI AG |
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MDPI AG |
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