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

Andrew K Metzger; Val C Sheffield; Geoffrey Duyk; Laleh Daneshvar; Michael S B Edwards; Philip H Cogen

doi:10.1073/pnas.88.17.7825

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

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

Andrew K Metzger, Val C Sheffield, Geoffrey Duyk, Laleh Daneshvar, Michael S B Edwards and Philip H Cogen

Proceedings of the National Academy of Sciences - PNAS, Vol.88(17), pp.7825-7829

09/01/1991

DOI: 10.1073/pnas.88.17.7825

PMCID: PMC52396

PMID: 1679237

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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.

Details

Title: Subtitle: Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma
Creators: Andrew K Metzger - Brain Tumor Research Center, University of California, San Francisco 94143
Val C Sheffield - Brain Tumor Research Center, University of California, San Francisco 94143
Geoffrey Duyk - Brain Tumor Research Center, University of California, San Francisco 94143
Laleh Daneshvar - Brain Tumor Research Center, University of California, San Francisco 94143
Michael S B Edwards - University of California, San Francisco
Philip H Cogen - Brain Tumor Research Center, University of California, San Francisco 94143
Resource Type: Journal article
Publication Details: Proceedings of the National Academy of Sciences - PNAS, Vol.88(17), pp.7825-7829
DOI: 10.1073/pnas.88.17.7825
PMID: 1679237
PMCID: PMC52396
NLM abbreviation: Proc Natl Acad Sci U S A
ISSN: 0027-8424
eISSN: 1091-6490
Publisher: National Academy of Sciences
Language: English
Date published: 09/01/1991
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984065492402771

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