myPath® Melanoma


Hereditary Melanoma

Increased surveillance is critical to the prevention, early detection and treatment of melanoma in patients at increased risk. Approximately 10% of melanoma cases are hereditary. Several genes have been associated with hereditary melanoma, including CDKN2A and CDK4. The CDKN2A gene encodes for two proteins p16INK4a (also called p16) and p14ARF. Mutations in CDKN2A account for 20-40% of hereditary melanoma cases. CDK4 gene mutations may account for approximately 2% and unknown, or as yet unidentified genes, account for the remainder of hereditary melanoma cases. The CDKN2A gene is a tumor suppressor gene involved in regulating cell growth. Mutations in p16 that disrupt its function lead to unregulated cell growth. The risk for melanoma and pancreatic cancer is significantly increased in people with mutations in the p16 gene. p16 is a tumor suppressor gene and mutations disrupt the gene function and lead to unregulated cell growth. Full size image p16 and melanoma_graph

myPath® Melanoma Testing

myPath® Melanoma testing assesses a person’s risk of developing hereditary melanoma. This test detects inherited mutations in the p16 gene (also called CDKN2A or INK4A), which are associated with hereditary melanoma. Identifying Patients at Risk for Hereditary Melanoma Finding patients at risk for a germline mutation in the p16 gene and following up with them is perhaps the most critical step in potentially changing hereditary cancer outcomes. The following “Red Flags” in a patient’s personal or family history are suggestive of the presence of a p16 mutation. Red Flags identify patients at risk for a p16 mutation, for whom further clinical evaluation to determine appropriateness of genetic testing is warranted.

  • Two or more melanomas in an individual or family
  • Melanoma and pancreatic cancer in an individual or family
  • Relatives of a p16 mutation carrier

Benefits of myPath® Melanoma Testing

For patients with a p16 gene mutation, the result of the myPath® Melanoma test enables the development of a patient-specific medical management plan to significantly reduce the risk of cancer. A positive result with myPath® Melanoma will allow you to:

  • Target screening and surveillance specifically to individuals with a p16 gene mutation—maximizing patient care and increasing clinical efficiency
  • Improve patient compliance with tailored screening recommendations and preventive measures
  • Improve outcomes through prevention, earlier diagnosis and treatment of cancer, should it develop
  • Counsel patients and their family members on the underlying cause of the pattern of melanoma and possibly pancreatic cancer
  • Avoid unnecessary interventions for family members who do not test positive for the mutation known to be in the family

Managing Patients with Hereditary Melanoma Syndrome

If the myPath® Melanoma test shows an increased risk for melanoma and pancreatic cancer, the following medical management options may help reduce that risk. Skin:

  • Increased surveillance
    • Monthly self skin exams by patients beginning in childhood
    • Clinical full-body skin exams every 6 to 12 months, beginning at age 10
    • Baseline whole-body photography every 6 to 12 months beginning at age 10
  • Preventive surgery
    • Immediate biopsy and/or removal of suspicious moles
    • Lower threshold to biopsy of suspicious moles
  • Preventive lifestyle adjustments
    • Limited exposure to the sun or ultraviolet radiation (e.g., tanning beds)
    • Protective clothing, such as wide-brimmed hats, sunglasses, and long-sleeved shirts
    • Application of sunscreen with a sun protection factor (SPF) of 15 or higher at regular intervals, especially in young children


  • Increased surveillance
    • Consider endoscopic ultrasound (EUS), computed tomography (CT), or endoscopic retrograde cholangiopancreatography (ERCP), OR
    • Referral to research screening protocols

What is the unique advantage of Myriad myPath® Melanoma testing?

No company has more experience in genetic testing for hereditary cancer than Myriad. Over the last 20 years, Myriad has delivered more than one million test results.

myPath® Melanoma FAQs

How do I get tested?

Speak to your doctor. Once your doctor orders a test for you from us, we will take care of the rest. The clinic will take a small blood sample and send it to the lab for testing. The lab cannot accept a test directly from you, as a doctor first needs to assess whether or not the test is right for you. Once the testing is completed, a report will be sent to your doctor who will then go through and explain your results to you, and suggest the next steps.

Can I use any other sample collection kit that is not provided by Myriad?

No! Our processes have been optimized and validated with the kits we provide.

Which completed forms must accompany my sample?

The clinic will help you complete and sign an Informed Consent Form. This form will be submitted with the sample. The consent form will be used to match your sample to the test request submitted by the doctor, and is needed to let the lab know that you have agreed to send your sample for the test. Samples received without these forms cannot be processed, as your consent is required to test your sample.

Who will receive the test results?

Myriad will provide your test report to the healthcare professional who ordered the test.

Why are the results of testing sent directly to the ordering healthcare professional rather than the patient or parent of a patient?

Results are sent to the ordering healthcare professional as they would need to discuss the results, result interpretation, treatment management, and any follow-up testing with you.