Approximately 10% of melanoma cases are attributed to hereditary predisposition. Hereditary melanoma is most frequently associated with familial atypical mole melanoma syndrome (FAMMM), which tends to occur in multiple members of the same family (also known as familial melanoma). Mutations in a number of genes involved in cell proliferation and melanin biosynthesis increase the risk of melanoma development. Inheritance of these genes may manifest as multiple family members with melanoma, as multiple primary melanomas in a given individual; or as a primary melanoma with onset at an early age. In general, the overall risk of melanomas in individuals who have one or more first-degree relatives with melanoma is approximately 5–12%. Other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li–Fraumeni syndrome (LFS), etc., may also increase the risk of melanoma. The majority of the gene mutations are transmitted in an autosomal dominant fashion. The identification of individuals at risk of developing hereditary melanoma is important in order to implement strategies for reducing the burden of early disease.
Our Hereditary Melanoma Sequencing Panel includes sequence analysis of the following 8 genes: CDKN2A, BRCA2, CDK4, MC1R, BAP1, TP53, BRCA1 and WRN.
Please use our Hereditary Cancer Requisition Form to order this test.
Any gene in the Hereditary Melanoma Panel can also be ordered individually. Please contact us directly for cost and CPT code information.