title: The spectrum of patched mutations in a collection of Australian basal cell carcinomas.
abstract: Inactivating mutations in the human patched (PTCH) gene have been identified in both familial and sporadic basal cell carcinomas (BCCs). In some tumors mutations have been detected in both alleles thereby supporting the role of PTCH as a tumor suppressor gene. We have analyzed 22/23 coding exons of PTCH for mutations in 44 sporadic BCCs, and detected 10 novel mutations in nine tumors. In two of the mutant tumors the remaining allele was inactivated by loss of heterozygosity. Five novel PTCH polymorphisms were also identified. Most of the variations found were C>T substitutions at dipyrimidine sites, supporting previous studies which indicate a role for ultraviolet-B in the genesis of sporadic BCCs.
authors.affiliation: Institute for Molecular Bioscience, University of Queensland, Australia.
authors.forename: T
authors.initials: T
authors.lastname: Evans
authors.forename: W
authors.initials: W
authors.lastname: Boonchai
authors.forename: S
authors.initials: S
authors.lastname: Shanley
authors.forename: I
authors.initials: I
authors.lastname: Smyth
authors.forename: S
authors.initials: S
authors.lastname: Gillies
authors.forename: K
authors.initials: K
authors.lastname: Georgas
authors.forename: B
authors.initials: B
authors.lastname: Wainwright
authors.forename: G
authors.initials: G
authors.lastname: Chenevix-Trench
authors.forename: C
authors.initials: C
authors.lastname: Wicking
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000502:physiology; D020261:Arsenic Poisoning / Q000473:pathology; D001315:Australia / Q000453:epidemiology; D002280:Basal Cell Carcinoma / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface