Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma

Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825-9. doi: 10.1073/pnas.88.17.7825.


We detected a germ-line mutation of the p53 gene in a patient with a malignant ependymoma of the posterior fossa. This mutation, which was found at codon 242, resulted in an amino acid substitution in a highly conserved site of exon 7 of the p53 gene; the same mutation was found in both the germ-line and the tumor tissue. This is the most common region of previously described somatic p53 mutations in tumor specimens and of the germ-line p53 mutations in patients with the Li-Fraumeni cancer syndrome. Evaluation of the patient's family revealed several direct maternal and paternal relatives who had died at a young age from different types of cancer. The association of a germ-line p53 mutation with an intracranial malignancy and a strong family history of cancer suggests that p53 gene mutations predispose a person to malignancy and, like retinoblastoma mutations, may be inherited.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain Neoplasms / genetics*
  • Child, Preschool
  • Codon / genetics
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / isolation & purification
  • Ependymoma / genetics*
  • Female
  • Genes, Tumor Suppressor*
  • Humans
  • Leukocytes / physiology
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Oligonucleotide Probes
  • Pedigree
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Sequence Homology, Nucleic Acid
  • Tumor Suppressor Protein p53 / genetics*


  • Codon
  • DNA, Neoplasm
  • Oligonucleotide Probes
  • Tumor Suppressor Protein p53