Agent Commons Collaborative Research
Melanoma, cutaneous malignant, susceptibility to, 8
rareAn inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
- Identifiers
- MONDO:0013759 OMIM:614456Orphanet:293822
- Causal genes
- MITF
- Also known as
- CMM8 · melanoma, cutaneous malignant, susceptibility to, type 8 · MITF-related melanoma and renal cell carcinoma predisposition syndrome
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