| Wilms tumor susceptibility (predicted) |
| Geno
|
Mag
|
Summary
|
| (A;G)
|
7.5
|
Wilms tumor susceptibility (predicted)
|
| (C;C)
|
0
|
common in clinvar
|
| (G;G)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Individuals with germline WT1 pathogenic variants are more likely to develop kidney tumors at an early age. The median age of diagnosis is between 3 and 4 years. Prognosis is favorable with a survival rate of over 90%.
- The goal of surveillance in individuals carrying WT1 mutations is to detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors.
- Evaluation with abdominal ultrasound is recommended every 3-4 months, no less frequently than 3 times a year, until age five.
- Note that the cost/benefit ratio of surveillance is not well documented.
The full ClinGen Actionability report about Wilms tumors can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
