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MELARIS® Case C
The patient is a woman diagnosed with melanoma at the age of 41. Her family history of cancer consists of her mother, who was also diagnosed with melanoma at the age of 54 and is deceased. This patient pursued Comprehensive MELARIS® due to the diagnosis of melanoma in both her and her mother. However, no mutation was detected by genetic testing.
Genetic Evaluation
- Based on the no mutation detected result for Comprehensive MELARIS®, the likelihood that this patient has hereditary melanoma has been reduced. The negative result leaves us without an explanation for the family history of melanoma.
- It is possible that this patient carries an undetectable p16 mutation or a mutation in another less common melanoma susceptibility gene (p14ARF or CDK4)
or a yet to be discovered
gene for hereditary melanoma. However, a more likely explanation is familial cancer due to a combination of genetic, environmental, and lifestyle factors. Her medical management must be based on her clinical history.
Medical Management
For patient:
- Given her personal and family history of melanoma, the patient will continue to have an increased risk of melanoma.
With regard to at-risk relatives:
- Since no mutation was detected in p16, her relatives are not at hereditary risk of melanoma. However, relatives are still at increased melanoma risk due to the family history (Conrad et al, 1999; Geller et al, 2003; Hemminki et al, 2003).
- The patient's relatives should talk with their healthcare providers about the family history of melanoma and recommendations for screening and prevention.
- Genetic testing would not be recommended for this patient's relatives, since no mutation was detected in her.
References
- Conrad N, Leis P, Orengo I, Medrano EE, Hayes TG, Baer S, Rosen T. (1999) Multiple primary melanoma. Dermatol Surg 25(7):576-81.
- Geller AC, Emmons K, Brooks DR, Zhang Z, Powers C, Koh HK, Sober AJ, Miller DR, Li F, Haluska F, Gilchrest BA (2003) Skin cancer prevention and detection practices among siblings of patients with melanoma. J Am Acad Dermatol 49(4):631-8.
- Hemminki K, Zhang H, Czene K (2003) Familial and attributable risks in cutaneous melanoma: effects of proband and age . J Invest Dermatol 120(2):217-23.
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