The study of children with Wilms' tumor, aniridia, genitourinary malformations, and mental retardation led to the localization and cloning of the Wilms' tumor-suppressor gene WT1 on chromosome 11p13. Studies involving children with Beckwith-Wiedemann syndrome and Wilms' tumor revealed evidence of a second genetic locus on chromosome 11p15, WT2. A third genetic locus not related to chromosome 11 has been implicated through linkage analyses. Additionally, loss of heterozygosity for 16q appears to be an adverse prognostic factor in the treatment of Wilms' tumor. The above molecular genetic findings in Wilms' tumor are reviewed.
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