An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

Br J Cancer. 2008 Sep 16;99(6):974-7. doi: 10.1038/sj.bjc.6604624.


The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.

Publication types

  • Evaluation Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Germ-Line Mutation / genetics*
  • Haplotypes
  • Heterozygote
  • Humans
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology
  • Polymorphism, Genetic / genetics*
  • Risk Factors
  • Tumor Suppressor Protein p53 / genetics*


  • BRCA1 Protein
  • BRCA2 Protein
  • Tumor Suppressor Protein p53