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ClinGen Actionability WT1

From SNPedia

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.

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