Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome

Abstract

Individuals with constitutional, heterozygous deletions of chromosome region 11p13 are predisposed to the development of Wilms' tumour, indicating the site of the tumour predisposition gene. The WT1 gene is a candidate for this cancer predisposition gene. If this gene is truely involved in tumorigenesis it would be expected to be mutant in tumour tissue from patients with 11p13 deletions. We have used single-stranded conformation polymorphism (SSCP) and polymerase chain reaction sequencing to test this hypothesis in an exon-by-exon analysis of the gene. Four tumours were analysed, two of which were from unilaterally affected individuals and two from a bilaterally affected patient. SSCP analy..