LOW-FREQUENCY OF MUTATIONS IN THE WT1 CODING REGION IN WILMS-TUMOR

A series of twenty unselected Wilms' tumors were analysed for alterati ons in the WT1 tumor suppressor gene. The entire coding region of WT1 was amplified by RNA-PCR, and then screened for mutations by single-st rand conformational polymorphism analysis (SSCP). This method was show n to be capable of detecting point mutations in the WT1 gene, by using an experimentally produced mutation. A single mutation, a 226 bp intr agenic deletion, was detected in a tumor from a patient with the WAGR syndrome. These results suggest that alterations in the WT1 gene may b e involved in only a subset of Wilms' tumors, and that other loci need to be investigated as potential suppressor genes in sporadic Wilms' t umors. (C) 1993 Wiley-Liss, Inc.