This is a genotype with recommended actions if clinically confirmed. In brief:
- BAP1 tumor predisposition syndrome (BAP1-TPDS) is characterized by tumors such as atypical Spitz tumors (AST), a type of skin lesion, as well as higher risk for other malignancies.
- Individuals should undergo an annual full-body dermatology exam beginning around age 20 years. In addition, patients should perform skin self-exams for melanoma.
- Yearly dilated eye examinations and imaging by an ocular oncologist are recommended for the detection of uveal melanoma.
- Annual abdominal ultrasound examination is recommended along with consideration of annual urinalysis and abdominal MRI every two years for the detection of clear cell renal cell carcinoma (ccRCC).
- Things to avoid include prolonged sun exposure, smoking, asbestos and arc welding.
The full ClinGen Actionability report about BAP1-based tumor predisposition syndrome 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.