melanoma, cutaneous malignant, susceptibility to, 8
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.
MONDO:0024462
susceptibility to familial cutaneous melanoma
is_a
CMM8
related
MITF-related melanoma and renal cell carcinoma predisposition syndrome
exact
melanoma, cutaneous malignant, susceptibility to, 8
exact
melanoma, cutaneous malignant, susceptibility to, type 8
exact