%0 Journal Article %1 Gessler.1994 %A Gessler, M. %A Koenig, A. %A Arden, K. %A Grundy, P. %A Orkin, S. %A Sallan, S. %A Peters, C. %A Ruyle, S. %A Mandell, J. %A Li, F. %A Cavenee, W. %A Bruns, G. %D 1994 %J Hum Mutat %K *Chromosome *Chromosomes;Human;Pair *Genes;Wilms *Mutation 11 Acid Amino Base Chain Child;Preschool Chromosome DNA DNA;Neoplasm/analysis/genetics Data Deletion Exons Female Gene Homozygote Humans Infant Introns Kidney Kidney/pathology Male Mapping Molecular Mutation Neoplasm Neoplasms/*genetics/pathology Point Polymerase Primers Reaction Sequence Staging Tumor Tumor/*genetics/pathology Wilms %N 3 %P 212--222 %T Infrequent mutation of the WT1 gene in 77 Wilms' Tumors %V 3 %X 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 WT1 exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WT1 allele. The overall frequency of WT1 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 WT1 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.

@article{Gessler.1994, abstract = {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 WT1 exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WT1 allele. The overall frequency of WT1 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 WT1 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.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Gessler, M. and Koenig, A. and Arden, K. and Grundy, P. and Orkin, S. and Sallan, S. and Peters, C. and Ruyle, S. and Mandell, J. and Li, F. and Cavenee, W. and Bruns, G.}, biburl = {https://www.bibsonomy.org/bibtex/29ab4324ce839b06041e8f004abc9d4ed/ebch}, interhash = {7ed062841073398f60cde474ef3da5ad}, intrahash = {9ab4324ce839b06041e8f004abc9d4ed}, journal = {Hum Mutat}, keywords = {*Chromosome *Chromosomes;Human;Pair *Genes;Wilms *Mutation 11 Acid Amino Base Chain Child;Preschool Chromosome DNA DNA;Neoplasm/analysis/genetics Data Deletion Exons Female Gene Homozygote Humans Infant Introns Kidney Kidney/pathology Male Mapping Molecular Mutation Neoplasm Neoplasms/*genetics/pathology Point Polymerase Primers Reaction Sequence Staging Tumor Tumor/*genetics/pathology Wilms}, number = 3, pages = {212--222}, timestamp = {2013-01-29T13:47:44.000+0100}, title = {Infrequent mutation of the WT1 gene in 77 Wilms' Tumors}, volume = 3, year = 1994 }