BACKGROUND

Over 54,000 new cases of melanoma are diagnosed each year in the United States, and the number of cases continues to rise annually. Early detection is critical to the prevention and treatment of patients at risk for melanoma. When diagnosed at a localized stage, approximately 96% of cutaneous melanomas can be cured through surgical excision. However, once the tumor has metastasized the prognosis is poor, with 5-year survival rates of approximately 12%. By accurately identifying patients with a genetic predisposition for melanoma it is possible to take steps to reduce the risk of melanoma, detect it at an early stage, and possibly prevent cancer.

Approximately 10% of all melanoma cases are hereditary. Several genes have been associated with hereditary melanoma, including p16, p14ARF, and CDK4. While mutations in the p14ARF and CDK4 genes have been associated with only a handful of hereditary melanoma families, approximately 20%-40% of hereditary melanoma can be linked to a mutation in the p16 gene. This makes p16 the largest known genetic cause of melanoma. A p16 mutation significantly increases an individual's risk of developing melanoma.

Melanoma attributed to p16 mutations develops at a significantly earlier age compared to the general population. The average age of diagnosis for mutation carriers in the United States is approximately 35 years with a range of 14-68 years. By comparison, the average age of diagnosis for patients in the general U.S. population is 57 years.

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