title: Exclusion of the Wilms tumour gene (WT1) promoter as a site of frequent mutation in Wilms tumour.
abstract: WT1 is a tumour suppressor gene expressed in a specific temporal and spatial pattern in the developing kidney. Up to 15% of Wilms tumours have point mutations in the WT1 gene coding sequence. We have now investigated whether mutations in the WT1 promoter could be associated with loss of control WT1 expression and subsequent Wilms tumour formation. Using single-strand conformational polymorphism (SSCP) analysis we analysed 39 sporadic Wilms tumours for WT1 promoter mutations. We found six linked common sequence polymorphisms and two unlinked less frequent polymorphisms which allowed us to identify four tumours with loss of heterozygosity but none with point mutations, small deletions, insertions or rearrangements. We therefore conclude that WT1 promoter mutations are unlikely to play an important role in Wilms tumorigenesis.
authors.affiliation: Department of Pathology, University of Otago Medical School, Dunedin, New Zealand.
authors.forename: G R
authors.initials: GR
authors.lastname: Grubb
authors.forename: K
authors.initials: K
authors.lastname: Yun
authors.forename: A E
authors.initials: AE
authors.lastname: Reeve
authors.forename: M R
authors.initials: MR
authors.lastname: Eccles
mesh_terms: D001483:Base Sequence; D016162:Genes, Wilms Tumor; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D009396:Wilms Tumor / Q000235:genetics*