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Article

Molecular Profile of Variants in CDH1, TP53, PSCA, PRKAA1, and TTN Genes Related to Gastric Cancer Susceptibility in Amazonian Indigenous Populations

by
Kaio Evandro Cardoso Aguiar
1,
Izabela De Sousa Oliveira
1,
Amanda De Nazaré Cohen-Paes
1,
Rita De Cássia Calderaro Coelho
1,
Lui Wallacy Morikawa Souza Vinagre
1,
Juliana Carla Gomes Rodrigues
1,
André Maurício Ribeiro-Dos-Santos
2,
Sandro José De Souza
3,
Ândrea Ribeiro-Dos-Santos
2,
João Farias Guerreiro
1,2,
Paulo Pimentel de Assumpção
1,
Sidney Emanuel Batista Dos Santos
1,2,
Ney Pereira Carneiro Dos Santos
1 and
Marianne Rodrigues Fernandes
1,*
1
Oncology Research Center, Federal University of Pará, Belém 66073-005, PA, Brazil
2
Laboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belém 66077-830, PA, Brazil
3
Brain Institute, Universidade Federal do Rio Grande do Norte, Natal 59078-970, RN, Brazil
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2023, 13(9), 1364; https://doi.org/10.3390/jpm13091364
Submission received: 25 July 2023 / Revised: 14 August 2023 / Accepted: 29 August 2023 / Published: 8 September 2023
(This article belongs to the Section Omics/Informatics)
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Abstract

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.
Keywords: gastric cancer; genomics; exome; indigenous population gastric cancer; genomics; exome; indigenous population
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MDPI and ACS Style

Aguiar, K.E.C.; Oliveira, I.D.S.; Cohen-Paes, A.D.N.; Coelho, R.D.C.C.; Vinagre, L.W.M.S.; Rodrigues, J.C.G.; Ribeiro-Dos-Santos, A.M.; De Souza, S.J.; Ribeiro-Dos-Santos, Â.; Guerreiro, J.F.; et al. Molecular Profile of Variants in CDH1, TP53, PSCA, PRKAA1, and TTN Genes Related to Gastric Cancer Susceptibility in Amazonian Indigenous Populations. J. Pers. Med. 2023, 13, 1364. https://doi.org/10.3390/jpm13091364

AMA Style

Aguiar KEC, Oliveira IDS, Cohen-Paes ADN, Coelho RDCC, Vinagre LWMS, Rodrigues JCG, Ribeiro-Dos-Santos AM, De Souza SJ, Ribeiro-Dos-Santos Â, Guerreiro JF, et al. 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. 2023; 13(9):1364. https://doi.org/10.3390/jpm13091364

Chicago/Turabian Style

Aguiar, Kaio Evandro Cardoso, Izabela De Sousa Oliveira, Amanda De Nazaré Cohen-Paes, Rita De Cássia Calderaro Coelho, Lui Wallacy Morikawa Souza Vinagre, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro-Dos-Santos, Sandro José De Souza, Ândrea Ribeiro-Dos-Santos, João Farias Guerreiro, and et al. 2023. "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 13, no. 9: 1364. https://doi.org/10.3390/jpm13091364

APA Style

Aguiar, K. E. C., Oliveira, I. D. S., Cohen-Paes, A. D. N., Coelho, R. D. C. C., Vinagre, L. W. M. S., Rodrigues, J. C. G., Ribeiro-Dos-Santos, A. M., De Souza, S. J., Ribeiro-Dos-Santos, Â., Guerreiro, J. F., Assumpção, P. P. d., Santos, S. E. B. D., Santos, N. P. C. D., & Fernandes, M. R. (2023). 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, 13(9), 1364. https://doi.org/10.3390/jpm13091364

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