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

• Autor(a) principal: Aguiar, Kaio Evandro Cardoso
• Data de Publicação: 2023
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRN
• Texto Completo: https://repositorio.ufrn.br/handle/123456789/54970
• topic: Exome; Gastric cancer; Genomics; Indigenous population

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