Genetic Testing in Melanoma

Submitted by Donna Markey, RN MSN ACNP-CS, Augusta Health Cancer Center

Melanoma incidence is not uncommon in our area. Approximately 10% of melanoma cases are thought to be associated with a genetic mutation. While that means 90% are not, an individual with a genetic mutation predisposing them to melanoma has a lifetime risk of getting melanoma ranging from 60% – 90%. Identifying these individuals (and their families) affected by these genetic mutations will ultimately lead to better outcomes for these people. Earlier diagnosis, treatment and ultimately prevention of this deadly disease are the goals for genetic screening, risk assessment and testing of affected individuals and their families.

Genes that can harbor melanoma –predisposing mutations include CDKN2A, CKD4, TERT, MITF and BAP1. These can be tested individually and as part of a high risk gene panel, as deemed appropriate at screening and risk assessment.

NCCN (National Comprehensive Cancer Network) guidelines for considering genetic predisposition include:

  • Three or more invasive melanomas in an individual, at any age
  • A mix of invasive melanoma, pancreatic cancer and/or astrocytoma in an individual or family member.

If your patient has had melanoma and/or has a family history of melanoma, pancreatic cancer and/or brain cancer, consider referring them for further assessment. Genetic risk assessment, screening, patient education and testing are available by referral to the Augusta Health Cancer Center. For referral, call the Cancer Center at 540-932-5960; for further information, questions or to discuss a patient of concern, please ask for Donna Markey, RN MSN ACNP-cs.


National Comprehensive Cancer Network. “NCCN Guidelines (version 2.2018) Melanoma.” Last accessed June 21, 2018