INTRODUCTION

Approximately ten percent of all melanoma cases are hereditary. Melanoma is the leading cause of skin cancer deaths in the United States. Early detection is critical to the prevention and treatment of melanoma, as it is highly curable when diagnosed early. The p16 gene is one of the primary genes responsible for hereditary melanoma. Genetic testing is available to accurately identify mutation carriers.

Individuals with mutations in the p16 gene face up to a 76% risk of developing melanoma. Known carriers of p16 mutations, however, can reduce their risk and prevent cancer by altering their surveillance strategies. In addition to lifestyle modifications regarding sun exposure, individuals at risk for hereditary melanoma should have bi-annual / annual clinical skin exams starting at age 10. The threshold for biopsy and/or removal of suspicious moles is lower in individuals with p16 mutations.

Individuals who should be offered genetic testing are those with a personal or family history of:

	Multiple diagnoses of primary melanoma
	Two or more family members with melanoma
	Melanoma and pancreatic cancer
	Melanoma and a personal/family history of melanoma and multiple atypical moles
	Relatives of a p16 mutation carrier

Once a mutation has been detected in a family, other family members can be tested for the specific family mutation. Those family members testing positive for the known mutation are managed more aggressively. By contrast, individuals who did not inherit the family mutation may adhere to general population screening guidelines (considering number of moles, sun exposure history, skin type, etc.)

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