title: No evidence for the H133Y mutation in SONIC HEDGEHOG in a collection of common tumour types.
abstract: The human homologue of the Drosophila segment polarity gene patched is mutated in the cancer predisposition syndrome naevoid basal cell carcinoma syndrome (NBCCS), as well as in several types of tumour associated with the disorder. It was recently reported that a single recurrent mutation in the SONIC HEDGEHOG gene, which encodes the PATCHED ligand, was found in one of 43 basal cell carcinomas (BCCs), one of 14 medulloblastomas and one of six breast carcinomas analysed (Oro et al., 1997). We have searched extensively for this same mutation in a large collection of BCCs, medulloblastomas and carcinomas of the breast, ovary and colorectum and have failed to detect the mutation in any sample analysed.
authors.affiliation: Centre for Molecular and Cellular Biology, University of Queensland, St Lucia, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Wicking
authors.forename: T
authors.initials: T
authors.lastname: Evans
authors.forename: B
authors.initials: B
authors.lastname: Henk
authors.forename: N
authors.initials: N
authors.lastname: Hayward
authors.forename: L A
authors.initials: LA
authors.lastname: Simms
authors.forename: G
authors.initials: G
authors.lastname: Chenevix-Trench
authors.forename: T
authors.initials: T
authors.lastname: Pietsch
authors.forename: B
authors.initials: B
authors.lastname: Wainwright
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D053823:Hedgehog Proteins; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D015534:Trans-Activators
chemical_list: D053823:Hedgehog Proteins; D011506:Proteins; C509239:SHH protein, human; D015534:Trans-Activators