Mutations of the PATCHED Gene in Several Types of Sporadic Extracutaneous Tumors
作者： Ervin H. Epstein , Ronald L. Johnson , Robert S. Warren , Matthew P. Scott , Anil G. Menon
DOI:
关键词: Tumor suppressor gene 、 Somatic cell 、 Biology 、 Mutation 、 Basal Cell Nevus Syndrome 、 Gene 、 Nonsense mutation 、 Missense mutation 、 Patched 、 Pathology
摘要: Patients with basal cell nevus syndrome have a high incidence of multiple carcinomas, medulloblastomas, and meningiomas. Because somatic PATCHED (PTCH) mutations been found in sporadic we screened for PTCH several types extracutaneous tumors. We that 2 14 medulloblastomas bear nonsense one copy the gene also deletion other copy. In addition, identified missense two seven breast nine meningiomas, colon cancer line. No were detected 10 primary carcinomas eighteen bladder carcinomas.
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