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Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors
Author(s): Xie JW, Johnson RL, Zhang XL, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen LC, Scott MP, Epstein EH
Source: CANCER RESEARCH    Volume: 57    Issue: 12    Pages: 2369-2372    Published: JUN 15 1997  
Times Cited: 173     References: 20     
Abstract: Patients with basal cell nevus syndrome have a high incidence of multiple basal cell carcinomas, medulloblastomas, and meningiomas. Because somatic PATCHED (PTCH) mutations have been found in sporadic basal cell carcinomas, we have screened for PTCH mutations in several types of sporadic extracutaneous tumors. We found that 2 of 14 sporadic medulloblastomas bear somatic nonsense mutations in one copy of the gene and also deletion of the other copy. In addition, me identified missense mutations in PTCH in two of seven breast carcinomas, one of nine meningiomas, and one colon cancer cell line. No PTCH gene mutations were detected in 10 primary colon carcinomas and eighteen bladder carcinomas.
Document Type: Article
Language: English
Addresses:
1. UNIV CALIF SAN FRANCISCO, SCH MED, DEPT DERMATOL, SAN FRANCISCO, CA 94143 USA
2. UNIV CALIF SAN FRANCISCO, SCH MED, DEPT LAB MED, SAN FRANCISCO, CA 94143 USA
3. UNIV CALIF SAN FRANCISCO, SCH MED, DEPT SURG, SAN FRANCISCO, CA 94143 USA
4. STANFORD UNIV, SCH MED, HOWARD HUGHES MED INST, DEPT DEV BIOL, STANFORD, CA 94305 USA
5. STANFORD UNIV, SCH MED, HOWARD HUGHES MED INST, DEPT GENET, STANFORD, CA 94305 USA
6. GEORGE WASHINGTON UNIV, MED CTR, DEPT NEUROSURG, WASHINGTON, DC 20010 USA
7. UNIV CINCINNATI, MED CTR, DEPT MOL GENET, CINCINNATI, OH 45267 USA
8. CALIF PACIFIC MED CTR, GERALDINE BRUSH CANC RES INST, SAN FRANCISCO, CA 94115 USA
Publisher: AMER ASSOC CANCER RESEARCH, PUBLIC LEDGER BLDG, SUITE 816, 150 S. INDEPENDENCE MALL W., PHILADELPHIA, PA 19106
Subject Category: Oncology
IDS Number: XD800
ISSN: 0008-5472
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