MELARIS - Hereditary Melanoma Overview

Etiology and Clinical Features of Hereditary Melanoma Syndrome

There are about 62,000 new cases of melanoma in the United States each year—and the incidence is increasing.³⁷ Approximately 10% of cases are hereditary, and may have a strong link to the development of pancreatic cancer.

Family linkage studies identified an autosomal dominant melanoma gene located on chromosome 9p21.⁴⁰

This gene, called p16 (also known as CDKN2A, INK4A, or MTS1), accounts for up to 40% of hereditary melanoma cases
p16 is a tumor suppressor gene involved in regulating cell growth
Mutations in p16 that disrupt its function lead to unregulated cell growth
In the United States, p16 mutations are likely responsible for 1000-2000 new melanoma cases each year
p16 mutations account for the majority of known genetic causes of inherited melanoma cases

Example of a male with an autosomal dominant mutation —
2 affected children and 2 unaffected children

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