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.
%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
}