Prevalence and Spectrum of Germline Mutations of the p53 Gene among Patients with Sarcoma
- 14 May 1992
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 326 (20) , 1301-1308
- https://doi.org/10.1056/nejm199205143262001
Abstract
Recent studies have identified germline mutations of the p53 tumor-suppressor gene in families with the Li—Fraumeni syndrome, a rare inherited disorder characterized by a high risk of sarcomas of bone and soft tissue, breast cancer, and other tumors. In this report, we address the possibility that some sporadic sarcomas may be associated with new germline mutations of the p53 gene, which would not be manifested as familial cancer unless the patient survived to reproduce.Keywords
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