Malignant tumor arising from melanocytes most commonly of cutaneous origin, but can be of mucosal (oral, conjunctival, vaginal), uveal or leptomeningeal origin
CDKN2A mutation in 20% of familial cases associated with risk of pancreatic cancer. Suspect if ≥ 3 primary CDKN2A-dependent cancers in patient and/or first-degree relatives.
BAP1 mutation
MITF (renal cancer risk)
Shelterin complex
Tert
CDK4
Other mutations include: MC1R (red hair phenotype), PTEN , BRCA1/2,p53, XP genes
Lightly pigmented skin
Tendency to burn, inability to tan
Red hair
Environmental
Excessive intermittent sun exposure, UVB>UVA, PUVA, tanning bed