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Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome
Author(s) -
Gessler Manfred,
König Anja,
Moore Jay,
Qualman Steven,
Arden Karen,
Cavenee Webster,
Bruns Gail
Publication year - 1993
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870070304
Subject(s) - wilms' tumor , cancer research , medicine , wilms tumour , oncology
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, WTI , has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' 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 WTI gene. Analysis of the remaining WTI 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 WTI polypeptide as a transcriptional regulator. © 1993 Wiley‐Liss, Inc.