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.
Medical Subject Headings
Amino Acid Sequence; Animals; Base Sequence; Brain Neoplasms (genetics); Child, Preschool; Codon (genetics); DNA, Neoplasm (blood, genetics, 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)
Proceedings of the National Academy of Sciences of the United States of America
Digital Object Identifier (DOI)
Metzger, A K.; Sheffield, V C.; Duyk, G; Daneshvar, L; Edwards, M S.; and Cogen, P H., "Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma" (1991). Neurosurgery. 1903.