Associação do SNP rs113488022 do gene BRAF na susceptibilidade do carcinoma basocelular utilizando o método PCR alelo específico estendido em amostras de pacientes da Paraíba

Abstract

Basal cell carcinoma (BCC) is one of the most common types of skin tumors that originate from epithelial basal cells that have lost their ability to differentiate and normalize keratinization. SNPs (Single nucleotide polymorphisms) occur frequently in the population and these variations in the genome can be studied with a predisposition to susceptibility to diseases, including cancer. This study aimed to genotype the BRAF gene rs113488022 SNP in BCC samples and determine the association of these SNPs with susceptibility to skin cancer development. 150 samples of paraffin tissue from patients in the State of Paraíba with a histopathological diagnosis of BCC were analyzed, totaling 300 alleles of each polymorphism. The modified allele-specific PCR method was the technique used for the genotyping of the samples. The Biostat software version 5.3 was used to analyze the genotypic frequencies. A p-value < 0.05 was established according to the Hardy-Weinberg equilibrium with an application of the chi-square test. Our results suggest that the SNP rs113488022 is not in Hardy-Weinberg equilibrium, it is showed a significant association with the BCC in the analyzed samples (X²=16.167 and P <0.003 ). The results suggest that the SNP rs113488022 has the potential as a molecular biomarker for susceptibility to basal cell carcinoma in the population of Paraíba.