Susceptibilidade ao câncer de mama no estado da Paraíba: associação aos SNPs rs63751445 do gene MSH2 e rs863224614 do gene MSH6

Detalhes bibliográficos
Ano de defesa: 2020
Autor(a) principal: Nascimento, Agnaldo Luiz do
Orientador(a): Não Informado pela instituição
Banca de defesa: Não Informado pela instituição
Tipo de documento: Dissertação
Tipo de acesso: Acesso aberto
Idioma: por
Instituição de defesa: Universidade Federal da Paraíba
Brasil
Biologia Celular e Molecular
Programa de Pós-Graduação em Biologia Celular e Molecular
UFPB
Programa de Pós-Graduação: Não Informado pela instituição
Departamento: Não Informado pela instituição
País: Não Informado pela instituição
Palavras-chave em Português:
Link de acesso: https://repositorio.ufpb.br/jspui/handle/123456789/20326
Resumo: Breast cancer (BC) is a worldwide public health problem, both due to the number of cases already diagnosed and due to the increasing incidence. It is the most prevalent type of cancer and the one with the highest mortality in the female population worldwide. However, coverage of services capable of early diagnosis of the disease has not reached adequate levels in developing countries, such as Brazil. In this context, the study of single nucleotide polymorphisms (SNPs) is relevant for the understanding of this morbidity and for the development of screening strategies. We highlight the polymorphisms that occur in genes related to the mismatch repair mechanism (MMR), especially in the MSH2 and MSH6 genes, which encode the proteins that make up the MutSα complex. This work is a product of the analysis of the association of SNPs rs63751445 (A>G) of the MSH2 gene and rs863224614 (T>G) of the MSH6 gene to susceptibility to CM in 100 samples obtained by histopathological examination of patients in the State of Paraíba – Brazil. In addition, the potential association of the occurrence of these SNPs with the variables age of diagnosis and anatomical location of the CM was tested. The methodology used was the Didesoxy Single Allele Specific PCR (DSASP) method. Statistical analysis was performed by comparison with the control population (population in Hardy-Weinberg equilibrium) using Pearson's Chi- square and Fischer's exact tests. The results suggest that there is no association between the SNPs in question and the variables age of diagnosis and anatomical location. However, both studied polymorphisms seem to be associated with susceptibility to BC in the population of the State of Paraíba – Brazil.