Michael S. B. Edwards

Publication Details

  • 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 Metzger, A. K., Sheffield, V. C., Duyk, G., DANESHVAR, L., Edwards, M. S., Cogen, P. H. 1991; 88 (17): 7825-7829

    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.

    View details for Web of Science ID A1991GC99200078

    View details for PubMedID 1679237

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