Melanoma - Genetic Risk
Who should be tested?
- No biomarker testing is recommended by NCCN with the exception of risk stratification. Genetic counseling and testing if any of the following are indicated:
- Early age at diagnosis (<30 years of age)
- History of other primary cancers in the patient
- Family or personal history of other cancers known to be associated with a hereditary syndrome:
- BAP1: RCC, mesothelioma, cutaneous melanoma, cholangiocarcinoma, meningioma
- BRCA, PALB2: breast, ovarian, or pancreatic cancers
When and what should be tested?
- Upon or before presentation
- Peripheral blood, saliva or buccal mucosa swab
What tests should be considered?
- NCCN/FDA Approved (uveal melanoma only)
- Low Risk
- Disomy 3
- Gain of function chromosome 6p
- EIF1AX mutation
- Medium Risk
- SF3B1 mutation
- High risk
- Monosomy 3
- Gain of chromosome 8q
- BAP1
- PRAME expression
- MBD4
- NF-1
- Low Risk
Cutaneous Melanoma
*Included for metastatic and stage III
**Ensure inclusion into the molecularly targeted set of testing recommendations