Table 1.
Commonly occurring gene mutations in Wilms’ tumour
| Gene | Type of mutation | Frequency | Germline or somatic? |
Tumour zygosity | Predicted effect | Refs |
|---|---|---|---|---|---|---|
| WT1 | Whole or partial gene deletion, insertion, nonsense and missense |
~20% | Both | Predominantly homozygous |
Inactivation of protein |
2,5 |
| WTX | Whole or partial gene deletion and nonsense |
~20% | Somatic only | Heterozygous and hemizygous |
Inactivation of protein |
4–7 |
| CTNNB1 | Inframe deletions and missense |
~15% | Somatic only | Heterozygous | Stabilization of protein |
3,90 |
| TP53 * | Missense | ~5% | Both | Heterozygous and homozygous |
Inactivation of protein |
1 |
*
Associated with anaplastic Wilms’ tumours.