Incidence of germ-line p53 mutations in patients with gliomas

Int J Cancer. 1995 Dec 20;64(6):383-7. doi: 10.1002/ijc.2910640606.


Epidemiological studies on intracranial tumors have suggested that the observed familial aggregation of a proportion of gliomas may be due to inherited predisposition to their development. In the Li-Fraumeni syndrome (LFS) associated with germ-line mutations of the p53 gene, nervous-system tumors are observed with increased frequency. However, the contribution of germ-line p53 mutation to the incidence of brain tumors has not been investigated. In order to address this point, we have performed 2 independent investigations. First, we have examined an unselected series of brain tumors. Whenever the presence of a p53 mutation in the tumor was observed, the possible germ-line origin of the mutation was investigated. Germ-line p53 mutations were also analyzed in constitutional DNA of patients with gliomas that had been selected for an unusual personal or familial history of cancer. Germ-line p53 mutations were detected in 1 out of 80 unselected cases and in 3 out of 15 selected cases (20%). We conclude that germ-line p53 mutation may contribute to a small fraction of gliomas that develop in the general population. The presence of a personal or familial history of cancer in a patient with glioma should prompt the search for a germ-line p53 mutation. However, the low frequency of p53 germ-line mutation suggests that alterations of this gene may not account for most familial cases of gliomas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Brain Neoplasms / epidemiology
  • Brain Neoplasms / genetics*
  • France / epidemiology
  • Germ Cells / metabolism
  • Germ-Line Mutation
  • Glioma / epidemiology
  • Glioma / genetics*
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Prevalence
  • Tumor Suppressor Protein p53 / genetics*


  • Tumor Suppressor Protein p53