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Departments of Dermatology [J. X., X. Z., J. W. B., E. H. E.], Laboratory Medicine [F. M. W.], and Surgery [R. S. W.], University of California School of Medicine, San Francisco, California 94143; Departments of Developmental Biology and Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305-5427 [R. L. J., M. P. S.]; Department of Neurosurgery, The George Washington University Medical Center, Washington, DC 20010-2970 [P. H. C.]; Department of Molecular Genetics, University of Cincinnati Medical Center, Cincinnati, Ohio 45267-0524 [A. G. M.]; and Geraldine Brush Cancer Research Institute, California Pacific Medical Center, San Francisco, California 94115 [L-C. C.]
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, we 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.
1 This work was supported by NIH Grant AR-39959 (to E. E.), a Neutrogena Dermatology Foundation Fellowship (to J. X.), Grant DRG1218 from the Cancer Research Fund of the Damon Runyon-Walter Winchell Foundation Fellowship, and a Walter V. and Idun Y. Berry Fellowship (to R. L. J.). M. P. S. is a Howard Hughes Medical Institute investigator.
2 To whom requests for reprints should be addressed, at San Francisco General Hospital, Building 100, Room 269, 1001 Potrero Avenue, San Francisco, CA 94110. Phone: (415) 647-3992; Fax: (415) 647-3996; E-mail: ehepstein@orca.ucsf.edu.
Received 2/26/97. Accepted 5/ 5/97.
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