Paper II
Question
What is the genetic basis of Wilms tumor.
Answer
Wilms tumour (nephroblastoma) is classically associated with mutations/deletions of the WT1 tumour suppressor gene on chromosome 11p13, which is essential for normal renal and gonadal development. It is also associated with WAGR syndrome (Wilms tumour, Aniridia, Genitourinary anomalies, mental Retardation — a contiguous gene deletion syndrome involving WT1 and the adjacent PAX6 gene), Denys-Drash syndrome, and Beckwith-Wiedemann syndrome (associated with WT2/IGF2 locus abnormalities on chromosome 11p15).