Author | Aoki, Mateus Nóbrega | |
Author | Stein, Angelika | |
Author | Oliveira, Jaqueline Carvalho de | |
Author | Chammas, Roger | |
Author | Uno, Miyuki | |
Author | Munhoz, Francielle Boçon de Araújo | |
Author | Marin, Anelis Maria | |
Author | Canzian, Federico | |
Access date | 2021-05-11T20:08:40Z | |
Available date | 2021-05-11T20:08:40Z | |
Document date | 2021 | |
Citation | AOKI, Mateus Nóbrega et al. Susceptibility loci for pancreatic câncer in the Brazilian population. BMC Medical Genomics, v.14, n. 111, p. 1–12, 2021. | pt_BR |
ISSN | 1755-8794 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/47140 | |
Language | por | pt_BR |
Publisher | BMC | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Suscetibilidade Genética | pt_BR |
Subject in Portuguese | SNPs | pt_BR |
Title | Susceptibility loci for pancreatic cancer in the Brazilian population | pt_BR |
Type | Article | pt_BR |
DOI | 10.1186/s12920-021-00956-5 | |
Abstract | Pancreatic adenocarcinoma (PA) is a very aggressive cancer and has one of the poorest prognoses. Usually, the diagnosis is late and resistant to conventional treatment. Environmental and genetic factors contribute to the etiology, such as tobacco and alcohol consumption, chronic pancreatitis, diabetes and obesity. Somatic mutation in pancreatic cancer cells are known and SNP profle by GWAS could access novel genetic risk factors for this disease in diferent population context. Here we describe a SNP panel for Brazilian pancreatic cancer, together with clinical and epidemiological data. Methods: 78 pancreatic adenocarcinoma and 256 non-pancreatic cancer subjects had 25 SNPs genotyped by realtime PCR. Unconditional logistic regression methods were used to assess the main efects on PA risk, using allelic, co-dominant and dominant inheritance models.
Results: 9 SNPs were nominally associated with pancreatic adenocarcinoma risk, with 5 of the minor alleles conferring protective efect while 4 related as risk factor. In epidemiological and clinical data, tobacco smoking, diabetes and pancreatitis history were signifcantly related to pancreatic adenocarcinoma risk. Polygenic risk scores computed using the SNPs in the study showed strong associations with PA risk. Conclusion: We could assess for the frst time some SNPs related with PA in Brazilian populations, a result that could be used for genetic screening in risk population such as familial pancreatic cancer, smokers, alcohol users and diabetes patients. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciências e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. | pt_BR |
Affilliation | Genomic Epidemiology Group. German Cancer Research Center. Heidelberg, Germany. | pt_BR |
Affilliation | Universidade Federal do Paraná. Departamento de Genética. Curitiba, PR, Brasil. | pt_BR |
Affilliation | Faculdade de Medicina da Universidade de São Paulo. Instituto do Câncer do Estado de São Paulo. Centro de Investigação Translacional em Oncologia. Departamento de Radiologia e Oncologia, São Paulo, SP, Brasil. | pt_BR |
Affilliation | Faculdade de Medicina da Universidade de São Paulo. Instituto do Câncer do Estado de São Paulo. Centro de Investigação Translacional em Oncologia. Departamento de Radiologia e Oncologia, São Paulo, SP, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciências e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciências e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. | pt_BR |
Affilliation | Genomic Epidemiology Group. German Cancer Research Center. Heidelberg, Germany. | pt_BR |
Subject | Pancreatic Neoplasms | pt_BR |
Subject | Carcinoma, Pancreatic Ductal | pt_BR |
Subject | Genetic Predisposition to Disease | pt_BR |
Subject | Genetic Association Studies | pt_BR |
Subject | Polymorphism, Single Nucleotide | pt_BR |
Subject in Spanish | Neoplasias Pancreáticas | pt_BR |
Subject in Spanish | Carcinoma Ductal Pancreático | pt_BR |
Subject in Spanish | Predisposición Genética a la Enfermedad | pt_BR |
Subject in Spanish | Estudios de Asociación Genética | pt_BR |
Subject in Spanish | Polimorfismo de Nucleótido Simple | pt_BR |
Subject in French | Tumeurs du pancréas | pt_BR |
Subject in French | Carcinome du canal pancréatique | pt_BR |
Subject in French | Prédisposition génétique à une maladie | pt_BR |
Subject in French | Études d'associations génétiques | pt_BR |
Subject in French | Polymorphisme de nucléotide simple | pt_BR |
DeCS | Neoplasias Pancreáticas | pt_BR |
DeCS | Carcinoma Ductal Pancreático | pt_BR |
DeCS | Predisposição Genética para Doença | pt_BR |
DeCS | Estudos de Associação Genética | pt_BR |
DeCS | Polimorfismo de Nucleotídeo Único | pt_BR |