Association of single nucleotide polymorphisms rs63751445 of the MSH2 gene and rs863224614 of the MSH6 gene with susceptibility to breast cancer in samples from Northeast Brazil

Abstract

Breast cancer (BC) is the cancer with the greatest epidemiological impact on the female population worldwide. The disease has a multifactorial etiology, with genetic implications that are not fully understood. In this context, genetic changes in the mismatch repair mechanism are notable for their potential relationship with BC, especially the single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation. The aim of this study was to evaluate for the first time the influence of the SNPs rs63751445 (A>G) of the MSH2 gene and rs863224614 (T>G) of the MSH6 gene for susceptibility to CM. For that, 100 samples obtained by histopathological examination of patients from the Northeast region of Brazil were used. 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. It was concluded that these two SNPs may be associated with susceptibility to BC in the studied population.