%0 Journal Article %1 Gessler.1993b %A Gessler, M. %A Koenig, A. %A Moore, J. %A Qualman, S. %A Arden, K. %A Cavenee, W. %A Bruns, G. %D 1993 %J Genes Chromosomes Cancer %K *Chromosome *Chromosomes;Human;Pair *Genes;Tumor 11 Acid Adolescent Alleles Amino Aniridia/genetics Base Cryptorchidism/genetics Data Deletion Expression Gene Heterozygote Humans Male Molecular Sequence Suppressor Syndrome Tumor/*genetics Wilms %N 3 %P 131--136 %T Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome %V 7 %X Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate 11p13 Wilms' tumor gene, WT1, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome 11 allele encompassing the WT1 gene. Analysis of the remaining WT1 allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WT1 polypeptide as a transcriptional regulator.

@article{Gessler.1993b, abstract = {Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate 11p13 Wilms' tumor gene, WT1, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome 11 allele encompassing the WT1 gene. Analysis of the remaining WT1 allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WT1 polypeptide as a transcriptional regulator.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Gessler, M. and Koenig, A. and Moore, J. and Qualman, S. and Arden, K. and Cavenee, W. and Bruns, G.}, biburl = {https://www.bibsonomy.org/bibtex/2b5ee0424fb60c9a6fbcba6350f918e68/ebch}, interhash = {3473949348292155b78d07e86569f5db}, intrahash = {b5ee0424fb60c9a6fbcba6350f918e68}, journal = {Genes Chromosomes Cancer}, keywords = {*Chromosome *Chromosomes;Human;Pair *Genes;Tumor 11 Acid Adolescent Alleles Amino Aniridia/genetics Base Cryptorchidism/genetics Data Deletion Expression Gene Heterozygote Humans Male Molecular Sequence Suppressor Syndrome Tumor/*genetics Wilms}, number = 3, pages = {131--136}, timestamp = {2013-01-29T13:47:44.000+0100}, title = {Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome}, volume = 7, year = 1993 }