title: Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
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, 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.
authors.affiliation: Department of Dermatology, University of California School of Medicine, San Francisco 94143, USA.
authors.forename: J
authors.initials: J
authors.lastname: Xie
authors.forename: R L
authors.initials: RL
authors.lastname: Johnson
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: J W
authors.initials: JW
authors.lastname: Bare
authors.forename: F M
authors.initials: FM
authors.lastname: Waldman
authors.forename: P H
authors.initials: PH
authors.lastname: Cogen
authors.forename: A G
authors.initials: AG
authors.lastname: Menon
authors.forename: R S
authors.initials: RS
authors.lastname: Warren
authors.forename: L C
authors.initials: LC
authors.lastname: Chen
authors.forename: M P
authors.initials: MP
authors.lastname: Scott
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
mesh_terms: D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D029721:Drosophila Proteins; D005260:Female; D006579:Heterozygote; D006801:Humans; D019476:Insect Proteins / Q000235:genetics*; D008527:Medulloblastoma / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008579:Meningioma / Q000235:genetics; D009154:Mutation; D011956:Receptors, Cell Surface; D014407:Tumor Cells, Cultured; D001749:Urinary Bladder Neoplasms / Q000235:genetics
chemical_list: D029721:Drosophila Proteins; D019476:Insect Proteins; D008565:Membrane Proteins; D011956:Receptors, Cell Surface; C070844:ptc protein, Drosophila