title: Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma.
abstract: The human homologue (PTCH) of the Drosophila segment polarity gene patched has recently been identified as a tumor-suppressor gene for nevoid basal cell carcinoma syndrome and for sporadic basal cell carcinomas of the skin. We analyzed 30 esophageal squamous cell carcinomas (ESCC) for intrageneic mutations of the PTCH gene by polymerase chain reaction-single-strand conformation polymorphism analysis followed by DNA sequencing. We identified two somatic PTCH mutations (7%) in 30 ESCC. These were a nonsense mutation (CAG to TAG at codon 361) in exon 8 and a missense mutation (CAG to CTG, Gln to Leu at codon 816) in exon 14. These tumors exhibited loss of heterozygosity at the polymorphic site of the PTCH gene. These results indicate that inactivation of the PTCH gene via a two-hit mechanism occurs in a subset of ESCC.
authors.affiliation: Department of Pathology, Iwate Medical University School of Medicine, Monoka, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Maesawa
authors.forename: G
authors.initials: G
authors.lastname: Tamura
authors.forename: T
authors.initials: T
authors.lastname: Iwaya
authors.forename: S
authors.initials: S
authors.lastname: Ogasawara
authors.forename: K
authors.initials: K
authors.lastname: Ishida
authors.forename: N
authors.initials: N
authors.lastname: Sato
authors.forename: S
authors.initials: S
authors.lastname: Nishizuka
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Aoki
authors.forename: K
authors.initials: K
authors.lastname: Saito
authors.forename: R
authors.initials: R
authors.lastname: Satodate
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004330:Drosophila; D029721:Drosophila Proteins; D004938:Esophageal Neoplasms / Q000235:genetics*; D005973:Glutamine / Q000235:genetics; D006801:Humans; D019476:Insect Proteins / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D019656:Loss of Heterozygosity; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011956:Receptors, Cell Surface; D012689:Sequence Homology, Nucleic Acid
chemical_list: D029721:Drosophila Proteins; D019476:Insect Proteins; D008565:Membrane Proteins; D011956:Receptors, Cell Surface; C070844:ptc protein, Drosophila; D005973:Glutamine; D007930:Leucine