Lack of mutations in the P53 gene exons 5 to 8 in ataxia-telangiectasia

Cancer Genet Cytogenet. 1993 Apr;66(2):128-9. doi: 10.1016/0165-4608(93)90242-e.

Abstract

Alterations of the TP53 tumor suppressor gene are present in various human malignancies and in the dominantly inherited Li-Fraumeni syndrome. Recently, a cell cycle checkpoint pathway involving p53 and GADD45 has been identified as defective in ataxia-telangiectasia. Using single strand conformation polymorphism analysis of PCR products, we looked for TP53 mutations in DNA of patients with AT. We did not find any mutation in 6 patients, suggesting that TP53 mutations are not directly involved in the cancer susceptibility observed in AT.

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Base Sequence
  • Exons*
  • Genes, p53*
  • Humans
  • Molecular Sequence Data
  • Mutation*