Publication date: Aug 01, 2026
Malignant melanoma represents a lethal cutaneous malignancy. This review article highlights somatic mutations as well as high- and moderate-penetrance germline genetic mutations frequently found in melanoma. BRAF and CDKN2A remain the most frequently identified somatic and germline mutations respectively; however, numerous others have been implicated including KRAS, c-KIT, CDK4, BAP1, TERT, POT1, ACD/TERF2IP and ATM. Approximately half of patients with familial melanoma syndrome do not have clearly identified or documented mutations. Thus, screening recommendations vary and polygenic risk scoring systems aid in personalized risk stratification and screening approaches. Collectively, this review synthesizes genetic insights to support precision-based clinical decision making.
Semantics
| Type | Source | Name |
|---|---|---|
| disease | MESH | Malignant Melanoma |
| disease | MESH | malignancy |
| pathway | KEGG | Melanoma |
| disease | MESH | ACD |
| disease | MESH | familial melanoma |
| disease | MESH | syndrome |
| disease | MESH | Genetic Predisposition to Disease |
| disease | MESH | Skin Neoplasms |