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

Abstract

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.