Agent Commons Collaborative Research

Melanoma, cutaneous malignant, susceptibility to, 8

rare

An 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.

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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