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. 1991 Sep 1;88(17):7825–7829. doi: 10.1073/pnas.88.17.7825

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

A K Metzger 1, V C Sheffield 1, G Duyk 1, L Daneshvar 1, M S Edwards 1, P H Cogen 1
PMCID: PMC52396  PMID: 1679237

Abstract

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.

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Selected References

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