Infrequent mutation of the WT1 gene in 77 Wilms' tumors

M. Gessler, A. König, K. Arden, P. Grundy, S. Orkin, S. Sallan, Craig A Peters, S. Ruyle, J. Mandell, F. Li, W. Cavenee, G. Bruns

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102 Scopus citations


Homozygous deletions in Wilms' tumor DNA have been a key step in the identification and isolation of the WT1 gene. Several additional loci are also postulated to contribute to Wilms' tumor formation. To assess the frequency of WT1 alterations we have analyzed the WT1 locus in a panel of 77 Wilms' tumors. Eight tumors showed evidence for large deletions of several hundred or thousand kilobasepairs of DNA, some of which were also cytogenetically detected. Additional intragenic mutations were detected using more sensitive SSCP analyses to scan all 10 WTl exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WTl allele. The overall frequency of WTl alterations detected with these methods is less than 15%. While some mutations may not be detectable with the methods employed, our results suggest that direct alterations of the WTl gene are present in only a small fraction of Wilms' tumors. Thus, mutations at other Wilms' tumor loci or disturbance of interactions between these genes likely play an important role in Wilms' tumor development. © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)212-222
Number of pages11
JournalHuman mutation
Issue number3
StatePublished - 1994


  • Deletion analysis
  • Mutation screening
  • Nephroblastoma
  • SSCP analysis
  • Tumor suppressor gene
  • WT1
  • Wilms' tumor
  • Zinc finger gene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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