Article
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1991
Metzger A K, Sheffield V C, Duyk G, Daneshvar L, Edwards M S, Cogen P H
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Brain Neoplasms
- Child, Preschool
- Codon
- DNA, Neoplasm
- Ependymoma
- Female
- Genes, Tumor Suppressor
- Humans