title: Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer.
abstract: The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 participants; the cancer-free control subjects were 26-72 years old (41 ± 11.03) and the BC patients were 28-80 years old (51 ± 10.70). We used standard polymerase chain reaction-restriction fragment length polymorphism and confirmed the results by genetic sequencing. In TP53*11, there was 100% homozygous Glu distribution in both groups. TP53*72 showed genotypic distribution: in the control group, there was 16.10% homozygous Pro, and 42.44% heterozygous and 41.46% homozygous Arg; in the BC group, there was 15.43% homozygous Pro, and 42.55% heterozygous and 42.02% homozygous Arg. The relative frequency of each allele was 0.37% for Pro and 0.63% for Arg in the control group, and 0.37% for Pro and 0.63% for Arg in the BC group. The nuclear grade (P = 0.0084) and adapted histological grade (P = 0.0265) were associated with TP53*72. The distribution of the codon 72 genotypes did not deviate from Hardy-Weinberg equilibrium in either group. In TP53*248, there was 100% homozygous Arg distribution in both groups. In codon 72, the Arg allele is the most prevalent in Brazilian women. TP53*72 may be associated with susceptibility to BC, although more studies are required to evaluate the profile of Brazilian women with BC.
authors.affiliation: Laboratório de Ginecologia Molecular e Proteômica, Departamento de Ginecologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: B C
authors.initials: BC
authors.lastname: Almeida
authors.affiliation: Laboratório de Ginecologia Molecular e Proteômica, Departamento de Ginecologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: J P F O
authors.initials: JP
authors.lastname: Kleine
authors.affiliation: Laboratório de Ginecologia Molecular e Proteômica, Departamento de Ginecologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.|Centro de Pesquisa Translacional, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: C M
authors.initials: CM
authors.lastname: Camargo-Kosugi
authors.affiliation: Laboratório de Ginecologia Molecular e Proteômica, Departamento de Ginecologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: M R
authors.initials: MR
authors.lastname: Lisboa
authors.affiliation: Departamento de Lípides, Aterosclerose e Biologia Vascular, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: C N
authors.initials: CN
authors.lastname: França
authors.affiliation: Laboratório de Biofísica Celular e Molecular, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz, Ilhéus, BA, Brasil.
authors.forename: J P
authors.initials: JP
authors.lastname: França
authors.affiliation: Laboratório de Ginecologia Molecular e Proteômica, Departamento de Ginecologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: I D C G
authors.initials: ID
authors.lastname: Silva
mesh_terms: D000328:Adult; D000483:Alleles; D001938:Brazil; D001943:Breast Neoplasms / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D003062:Codon; D016159:Tumor Suppressor Protein p53