MELANOMA AND GENETICS

By Gary M. White, MD


Two Distinct Types Of Testing

Melanoma Familial Genes

CDKN2A

CDK4

BRCA2

BAP1 Tumor Syndrome

When Should Germline Testing Be Considered?

A large French study recommended the use of the rule of 3 for patients over the age of 40 and the rule of 2 for patients when the melanoma developed before the age of 40 [JAMA Derm 2017;153;1122]. The rule of 3 is met when there are 3 or more primary melanomas or genetically related cancers in the patient or first or second degree relatives. Genetically related cancers include exocrine pancreas adenocarcinoma, renal clear cell carcinoma, CNS tumors, mesothelioma and ocular melanoma.

Somatic Testing--Why Do It?

BRAF testing

Somatic Mutation-Based Therapy

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