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MELARIS® Case D
The patient was diagnosed with melanoma at the age of 38. Her family history of cancer consists of a paternal aunt, who was diagnosed with melanoma at age 43 and pancreatic cancer at age 55, and her paternal grandmother, who was diagnosed with melanoma at age 60. The patient's father died at the age of 32 in a car accident. This patient pursued Comprehensive MELARIS® due to her strong family history of melanoma and pancreatic cancer. However, no mutation was detected by genetic testing.
Genetic Evaluation
- This patient's family history is highly suggestive of hereditary melanoma. The no mutation detected result for Comprehensive MELARIS® does not rule out hereditary risk in this family.
- Although the majority of mutations in p16 are detected by Comprehensive MELARIS®, some less common mutations in this gene are not. It is also possible that this patient carries a mutation in another less common melanoma susceptibility gene (p14ARF or CDK4) or
a yet to be discovered
gene for hereditary melanoma.
- Due to the significant cancer risk in this family, it may be appropriate to investigate further testing for the other known hereditary melanoma susceptibility genes. These genes are not currently tested for at Myriad Genetic Laboratories. For information on clinical laboratories that perform this testing, contact Myriad's Medical Services Department at 1-800-469-7423 or the Regional Medical Specialist in your area.
- Further evaluation by a genetics specialist might be appropriate.
- Despite the no mutation detected result, this family must be managed for hereditary melanoma.
Medical Management
For patient:
- Medical management should be the same as an individual who has a mutation in p16 , since this patient's history is
highly suspicious
for hereditary melanoma. Click here for the appropriate medical management for this patient. The patient's risk of developing a second primary melanoma or pancreatic cancer is significantly increased.
With regard to at-risk relatives:
- Click here for the appropriate medical management for at-risk relatives. All at-risk relatives in this family should be treated as if they may have hereditary melanoma.
- Unfortunately, genetic testing would not be useful for unaffected relatives since no mutation was detected in the patient with cancer.
Additional Steps
- Participation in research studies looking for additional gene mutations may be an option for families with hereditary melanoma in whom no mutation is found through Comprehensive MELARIS®.
- Patients also have the option to bank a sample of DNA for use in the future in case additional genetic tests become available that may explain the family history if the patient is no longer living. Genetic testing is always most useful when first performed on an affected member of the family.
- If you would like more information about possible research studies for a patient or DNA banking, please call your Regional Medical Specialist or 1-800-469-7423 to speak with a Myriad Medical Services Representative.
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