Positive for a Deleterious Mutation
or Suspected Deleterious

This information is designed for individuals who have been tested for a hereditary cancer syndrome. It will help you understand the results of your test and is best reviewed with your healthcare provider. Please choose the link below that matches your test result by looking at the patient copy of your test result or contacting the healthcare provider who ordered your test.

The Genetic Test(s) You Received

  • Comprehensive MELARIS ®: Full sequence analysis of the p16 gene.
  • Singe Site MELARIS ®: Mutation-specific analysis for individuals with a known p16 mutation in the family.

Your Test Result

  • Positive for a Deleterious Mutation
  • Genetic Variant, Suspected Deleterious

Overview of Your Test Result

Mutations in the p16 gene are the most common known cause of hereditary melanoma syndrome.

  • You have a mutation or alteration in the p16 gene.
  • You have hereditary melanoma syndrome.
  • Hereditary melanoma syndrome increases the risk of melanoma and pancreatic cancer.
  • The risk of developing these cancers is less than 100%. Not everyone with a p16 mutation will develop cancer.

Your Cancer Risks

Having a p16 mutation increases the risk of certain cancers. If you have already had a cancer diagnosis, you have an increased risk of developing another cancer.

  p16
Mutation
Risk		 General
Population
Risk
Melanoma by age 80 Up to 76%* ~1%
Pancreatic Cancer by age 75 Up to 17%
in some families		 <1%

*Based on U.S. data.

Managing Your Risks

Options for reducing cancer risk are available whether or not you have already had a cancer diagnosis. The following are medical management guidelines for p16 mutation positive individuals. Discuss these options with the appropriate medical professionals to determine how you will manage your cancer risks.

Increased Surveillance

  • Clinical skin exams every 6 to 12 months beginning at age 10. More frequent exams may be necessary during puberty or pregnancy if moles are rapidly changing.
  • Skin self-exam performed every month beginning in childhood.
  • Color photographs of the entire surface of the skin and close-ups of atypical moles may be useful in comparing moles over time in both clinical and self-exams.

Surgical Management

  • Biopsy and/or removal of suspicious moles.

Lifestyle Modifications

  • Limit or reduce exposure to the sun or ultraviolet radiation (for example: tanning beds). Do not get sunburned.
  • Wear protective clothing, such as wide-brimmed hats, sunglasses, and long-sleeved shirts when going outside.
  • Apply sunscreen with a Sun Protection Factor (SPF) of 15 or higher at regular intervals when outside to prevent sunburns.

Pancreatic cancer surveillance may be considered in some individuals. Please speak to your healthcare provider.

It’s a Family Affair

p16 mutations are passed on in a family. Now that a mutation has been identified in you:

  • Your close blood relatives (parents, children, brothers, and sisters) have a 50% chance of having the same mutation.
  • More distant relatives (cousins, uncles, and aunts) also have a chance of having the mutation that runs in your family.
  • Generally, the mutation is only going to be found on the side of your family (father's or mother's) that has the history of melanoma and/or pancreatic cancer.

Your relatives can be offered Single Site MELARIS® to determine whether or not they have the same mutation.

  • Relatives interested in genetic testing will need to know your specific mutation. It is best to provide your relatives with a copy of your test result which you can obtain from your healthcare provider.
  • Single Site MELARIS® costs much less than a comprehensive test and may be covered by insurance.
  • If your relative is:
    • Positive for the mutation, he/she has the increased cancer risks associated with a p16 mutation and can benefit from appropriate medical management.
    • Negative for the mutation, he/she has an average risk for pancreatic cancer and a slightly elevated risk over the general population for melanoma. A healthcare provider can recommend an individualized screening plan based on other genetic, environmental, or lifestyle risk factors that may be present in the family.

Your healthcare provider can assist in determining which of your relatives should consider genetic testing.

If you need a copy of your genetic test result, please contact the healthcare provider who ordered your test.

Next Steps

Please work with your healthcare provider to determine the most appropriate next steps for you.

  • Obtain a copy of your test result.
  • Schedule consultations with appropriate healthcare providers.
  • Create a plan for medical management.
  • Share your genetic test result with your relatives (identify your specific mutation so relatives can have Single Site testing).
  • Re-contact your healthcare provider on a regular basis for new information for p16 mutation carriers.

Additional Resources

Myriad has resources available to help you with your genetic test result.

  • Contact Myriad’s Medical Services Department at 1-800-469-7423 for:
    • Answers to questions about your test result.
    • Information about genetic testing for your relatives.
  • Online tools:

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