Molecular and dinical aspects of genetic predisposition to cutaneous malignant melanoma

Cutaneous malignant melanoma is a form of cancer for which both environmental influence and hereditary predisposition are major causative factors. Approximately 5% to 10% of cases of cutaneous melanoma occur in families that have a hereditary predisposition for this disease. Genetic studies have recently identified a subset of genes that are associated with risk for melanoma. Germline mutations in the CDKN2A gene have been identified in 20% to 50% of such melanoma families. This is an overview of our current understanding of modifications in high (CDKN2A, CDK4) and in low genes (MC1R, XPA, etc.) penetrance susceptibility, that have been associated with melanoma risk and how these genes can enrich clinical management and early detection of malignant melanoma.

CDK4, hereditary cutaneous malignant melanoma, sporadic cutaneous malignant melanoma, genes CDKN2A, CDK4