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Comprehensive MELARIS®
POSITIVE FOR A DELETERIOUS MUTATION
 A positive for a deleterious mutation test result means that a deleterious mutation was found in the p16 gene indicating an increased risk for cancers associated with hereditary melanoma. If your patient has already been diagnosed with cancer, a positive for a deleterious mutation result indicates an increased risk for a second primary cancer. Click here to a view a list of published estimates of cancer risks for p16 mutation carriers.
Download the Results Patient Education Tool
MELARIS® Positive for a Deleterious Mutation or Suspected Deleterious
A positive for a deleterious mutation result allows you to personalize your patient's medical management and enables other family members to determine whether they also inherited the mutation and its associated cancer susceptibility.
Medical Management Recommendations
Increased Surveillance
- Clinical Skin Exams: Performed by a qualified healthcare provider every 6 to 12 months beginning at age 10. More frequent clinical exams may be necessary for patients during puberty or pregnancy if their moles are rapidly changing.
- Baseline Photographs: Color photos of the entire surface of the skin and close-ups of atypical nevi are useful. Copies may be given to the patient to aid self-examinations.
- Self-Skin Exam: Beginning in childhood, the procedure should be performed once a month in a well lit room using a hand-held mirror in front of a full-length mirror. A parent or partner should be used to examine parts of the body the patient is unable to see clearly.
- Pancreatic cancer screening may be valuable for some individuals.
Surgical Options
- Biopsy and/or removal of suspicious moles.
Lifestyle Modifications
- Limit exposure to the sun or ultraviolet radiation (e.g. tanning beds).
- When going outside patients should wear protective clothing, such as wide-brimmed hats, sunglasses, and long-sleeved shirts.
- Apply sunscreen with a Sun Protection Factor (SPF) of 15 or higher at regular intervals to prevent sunburns, especially in young children.
Implications for Family Members
Once a mutation has been detected in a family, other family members can be tested for the specific family mutation. First-degree relatives are at 50% risk to carry the same mutation. Those family members testing positive for the known mutation may be managed more aggressively.
First-degree relatives include an individual's parents, siblings, and children. Click here for a pedigree that indicates which family members are first-degree, second-degree, and third-degree relatives. Other more distant family members, such as nieces, nephews, aunts, uncles, and cousins, may also be at risk to have the same gene mutation found in your patient. In order to determine which side of the patient's family is at risk for carrying the mutation, the parents may have Single Site MELARIS® to determine their mutation status. For some patients, it may be possible to assume which side of the family is at risk, based on the history of cancer in the family. If possible, the suspected parent's carrier status should be confirmed through genetic testing. It is important to remind patients about the importance of sharing their genetic information with at-risk family members.
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