Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
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.
Brain Tumor Research Center, University of California, San Francisco 94143.
A K
AK
Metzger
V C
VC
Sheffield
G
G
Duyk
L
L
Daneshvar
M S
MS
Edwards
P H
PH
Cogen
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001932:Brain Neoplasms / Q000235:genetics*; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004806:Ependymoma / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012689:Sequence Homology, Nucleic Acid; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D003062:Codon; D004273:DNA, Neoplasm; D015345:Oligonucleotide Probes; D016159:Tumor Suppressor Protein p53