WT1-Related Wilms Tumor

Back to Curriculum

WT1-Related Wilms Tumor refers to hereditary predisposition to Wilms tumor (nephroblastoma), the most common kidney cancer in children, caused by mutations in the WT1 gene. While most Wilms tumors are sporadic, approximately 1-2% are associated with germline WT1 mutations. These can occur as part of recognized syndromes (WAGR, Denys-Drash, Frasier) or as isolated Wilms tumor predisposition.

WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual disability/Range of developmental issues) is caused by deletions on chromosome 11p13 that include both the WT1 gene and the adjacent PAX6 gene. Children with WAGR have a 45-60% lifetime risk of developing Wilms tumor and require intensive surveillance with abdominal ultrasounds every 3-4 months until age 8.

Denys-Drash syndrome features Wilms tumor, early-onset kidney failure due to diffuse mesangial sclerosis, and disorders of sexual development in XY individuals. Frasier syndrome involves gonadal dysgenesis, progressive kidney disease (focal segmental glomerulosclerosis), and increased risk of gonadoblastoma. Both are caused by specific types of WT1 mutations affecting different domains of the protein.

The WT1 gene encodes a transcription factor critical for kidney and gonad development. Wilms tumor typically presents as an abdominal mass in children under 5 years of age. With modern treatment including surgery, chemotherapy, and sometimes radiation, survival rates exceed 90% for most patients. WT1 mutations are inherited in an autosomal dominant pattern with variable penetrance, and genetic testing allows for appropriate surveillance and management in affected families.

NutraHacker examines the following gene related to WT1-Related Wilms Tumor:

For more information about your own genetic profile as related to WT1-Related Wilms Tumor, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload whole genome sequencing data and find out more about your critical genetics today.