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Prevalence and Spectrum of Germline Mutations of the p53 Gene among Patients with Sarcoma

1992; Massachusetts Medical Society; Volume: 326; Issue: 20 Linguagem: Inglês

10.1056/nejm199205143262001

1533-4406

Junya Toguchida, Toshikazu Yamaguchi, Siri H. Dayton, Roberta L. Beaughamp, Guillermo E. Herrera, Kanji Ishizaki, Takao Yamamuro, Paul A. Meyers, John B. Little, Masao S. Sasaki, Ralph R. Weichselbaum, David W. Yandell,

Hedgehog Signaling Pathway Studies

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.