p53 codon 72 polymorphism as a risk factor in the development of breast cancer

Mol Cell Biol Res Commun. 2000 Jun;3(6):389-92. doi: 10.1006/mcbr.2000.0241.


The p53 gene is polymorphic at amino acid 72 of the protein that it encodes. It has been reported that patients with the arginine form have a higher risk of developing other forms of cancer than those with the proline form. The purpose of this study was to examine whether p53 Arg at the polymorphic position 72 could represent a risk factor for women with breast lesions. The study population included 56 biopsies from patients with breast lesions. Also, 61 normal blood samples were used as controls. There was a difference in the distribution of p53 genotypes between breast cancer lesions and the normal samples. The allele frequency of p53 Arg/Arg was much higher than that of the normal samples (61% versus 20%). Based on the findings of this study, it is suggested that p53 Arg homozygosity could represent a risk factor for the tumorigenesis of the breast.

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution / genetics
  • Arginine / genetics
  • Arginine / metabolism
  • Breast Neoplasms / chemistry
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Codon / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Homozygote
  • Humans
  • Middle Aged
  • Neoplasm Staging
  • Polymorphism, Genetic / genetics*
  • Proline / genetics
  • Receptors, Estrogen / analysis
  • Receptors, Progesterone / analysis
  • Tumor Suppressor Protein p53 / chemistry
  • Tumor Suppressor Protein p53 / genetics*


  • Codon
  • Receptors, Estrogen
  • Receptors, Progesterone
  • Tumor Suppressor Protein p53
  • Arginine
  • Proline