Is p53 intronic variant G13964C associated with predisposition to cancer?

J Appl Genet. 2003;44(4):547-52.


Germline mutations of the p53 gene confer a high risk of diverse malignancies. The highest frequency of inherited p53 defects was noted in Li-Fraumeni syndrome (LFS), but almost half of the mutations were found in families with incomplete Li-Fraumeni-like syndrome (LFL), including familial breast cancer cases. Recently, a germline intronic G13964C base change of the p53 was reported as a high-risk mutation associated with familial breast cancer (LEHMAN et al. 2000). We genotyped Polish cancer patients and healthy control individuals for the G13964C variant. Patients were chosen from cancer families with phenotypes typical for germline mutations of p53 (LFS, LFL), BRCA1 [hereditary breast (ovarian) cancer, HB(O)C] or a complex consistent with both LFL and HB(O)C. Children with leukemia were included in the study as another high risk group (FELIX et al. 1992). The G13964C variant was detected in six of 87 (6.9%) cancer patients (including two ALL children), but also in eight of 96 (8.3%) control individuals (p > 0.4). Thus we found no evidence of the variant's association with a high risk of cancer.

MeSH terms

  • Breast Neoplasms / etiology
  • Breast Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Introns
  • Male
  • Ovarian Neoplasms / etiology
  • Ovarian Neoplasms / genetics*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Tumor Suppressor Protein p53 / genetics*


  • Tumor Suppressor Protein p53