CTNNB1 gene

CTNNB1 is one of the most commonly altered genes in Wilms tumor, reported to occur in 15% of patients with Wilms tumor.[2,4,13,15,34] These CTNNB1 variants result in activation of the WNT pathway, which plays a prominent role in the developing kidney.[35] CTNNB1 variants commonly occur with WT1 variants, and most cases of Wilms tumor with WT1 variants have a concurrent CTNNB1 variant.[13,15,34] Activation of beta-catenin in the presence of intact WT1 protein appears to be inadequate to promote tumor development because CTNNB1 variants are rarely found in the absence of a WT1 or AMER1 variant, except when associated with a MLLT1 variant.[4,36] CTNNB1 variants appear to be late events in Wilms tumor development because they are found in tumors but not in nephrogenic rests.[18]