title: Low frequency of mutations in the WT1 coding region in Wilms' tumor.
abstract: A series of twenty unselected Wilms' tumors were analysed for alterations in the WT1 tumor suppressor gene. The entire coding region of WT1 was amplified by RNA-PCR, and then screened for mutations by single-strand conformational polymorphism analysis (SSCP). This method was shown to be capable of detecting point mutations in the WT1 gene, by using an experimentally produced mutation. A single mutation, a 226 bp intragenic deletion, was detected in a tumor from a patient with the WAGR syndrome. These results suggest that alterations in the WT1 gene may be involved in only a subset of Wilms' tumors, and that other loci need to be investigated as potential suppressor genes in sporadic Wilms' tumors.
authors.affiliation: CLIC Research Unit, Department of Pathology & Microbiology, School of Medical Sciences, Bristol, UK.
authors.forename: K W
authors.initials: KW
authors.lastname: Brown
authors.forename: H P
authors.initials: HP
authors.lastname: Wilmore
authors.forename: J E
authors.initials: JE
authors.lastname: Watson
authors.forename: M G
authors.initials: MG
authors.lastname: Mott
authors.forename: P J
authors.initials: PJ
authors.lastname: Berry
authors.forename: N J
authors.initials: NJ
authors.lastname: Maitland
mesh_terms: D016162:Genes, Wilms Tumor; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D009154:Mutation; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012313:RNA / Q000032:analysis / Q000302:isolation & purification; D014158:Transcription, Genetic; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: D012313:RNA