Análise de polimorfismos nos códons 11, 72 e 248 do gene tp53 em mulheres com câncer de mama

• Ano de defesa: 2016
• Autor(a) principal: Almeida, Bruna Cristine de [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: breast cancer; codons; tp53; gene polymorphism; p53 protein; snp; câncer de mama; códons; polimorfismo
• Link de acesso: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=3609227; https://repositorio.unifesp.br/handle/11600/46351

We evaluated the association between TP53 gene polymorphisms and Breast Cancer in Brazilian women. Genomic DNA was extracted from peripheral blood cells collected from 393 women. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu-Gln (GAG?CAG), TP53*72 Pro-Arg (CCC?CGC), and TP53*248 Arg-Gln (CGG?CAG) using the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). TP53*11 presented the following genotypic distribution: the control group was 100% homozygous Glu and the heterozygous genotype was not identified. The genotypic distribution in breast cancer group was 100% homozygous Glu. The heterozygous and the homozygous Gln genotype were not identified. TP53*72 showed the following genotypic distribution: the control group was 16.10% homozygous Pro (Pro/Pro), 42.44% heterozygous (Pro/Arg), and 41.46% homozygous Arg (Arg/Arg). The genotypic distribution in breast cancer group was 15.43% homozygous Pro (Pro/Pro), 42.55% heterozygous (Arg-Pro), and 42.02% homozygous Arg (Arg/Arg) (odds ratio (OR) =1.052; 95% CI =0.6108-1.812; p = 0.9823) with the allele frequencies p= 0.8584. We also evaluated the effect of the p53 - codon 72 - polymorphism on clinicopathologic features, nuclear grade (p= 0.0084) and adjusted histologic grade (p= 0.0057). The polymorphism is accordingly with Hardy-Weinberg equilibrium. Our results indicate that there were more homozygous Arg than homozygous Pro. No one patient had the homozygous Gln (Gln/Gln) and the heterozygous (Arg/Gln) TP53*248 genotype; all patients (100%) were homozygous Arg (Arg/Arg) in both the control and breast cancer groups. There is no statically significance. We found that TP53*11 and TP53*248 polymorphism may not be associated with susceptibility to breast cancer; Hence, the TP53*72 polymorphism evaluated is associated with clinical variables. These SNPs may not be associated with prognosis due to its no association with clinical variables. Breast Cancer, Codons, TP53, Gene polymorphism; p53 Protein, SNP.