Low frequency of mutations in the WT1 coding region in Wilms' tumor

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. © 1993 Wiley‐Liss, Inc.