Associação de Polimorfismos de Nucleotídeo Único (SNPS) dos genes PSCA, TP53 e NQO1 e sua relação com o desenvolvimento de carcinoma mamário em mulheres no Estado da Paraíba

• Ano de defesa: 2020
• Autor(a) principal: Guimarães, Beatriz Dantas
• 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
• Palavras-chave em Português: Câncer de mama; SNP; PSCA; TP53; NQO1; Breast cancer; CNPQ::CIENCIAS BIOLOGICAS::BIOLOGIA GERAL
• Link de acesso: https://repositorio.ufpb.br/jspui/handle/123456789/18318

Breast cancer is a worldwide public health problem with a high incidence and mortality rate. In addition to the high incidence, breast cancer is the fifth most prevalent cause of mortality of cancers in general among women. In Brazil, 59,700 new cases of breast cancer are expected in 2018-2019, with this type of cancer being more recurrent in the South, Southeast, Midwest and about 26% of cases coming from the Northeast region. The increase in new cases mainly due to the new reproductive habits and current lifestyles of contemporary women, in addition to the high risk of death in late diagnoses, although genetic mutations are the main factor responsible for the development of cancer. Single nucleotide polymorphism (SNP) are genetic variations in DNA sequences, where single nucleotide substitutions occurs, which can be produced due to DNA replication failures or specific chemical modifications. Genome changes are a typical cancers feature and studies have been performed to explore gene variations caused by SNPs and their association with increased susceptibility to cancer development. Thus, the present study aimed to NQO1, PSCA and TP53 genes polymorphisms, in order to discover a possible connection between them and breast cancer development. SNPs rs2976392 in PSCA gene, rs368771578 in TP53 gene and rs1800566 in NQO1 gene were genotyped in 100 paraffin tissue samples from patients diagnosed with breast cancer. The results were obtained by genotyping method, Dideoxy Unique Allele Specific - PCR (DSASP). Chi-square and Fisher's Exact Test with significance level of 5% were applied for statistical analysis. SNPs rs2976392 were not statistically significant. However, SNP rs368771578 and rs1800566, from TP53 and NQO1 genes, respectively, showed a significant statistical association, suggesting they are possibly related to the increased susceptibility of breast cancer development.