Introduction
Melanoma is a type of skin cancer that originates from pigment-producing cells in the skin, known as melanocytes. Although it is one of the most aggressive forms of skin cancer, it can be controlled with early diagnosis and appropriate treatment. At Sapiens Genetics, we aim to enhance the safety of your health journey by identifying your melanoma risk through genetic analysis and offering personalized treatment strategies.
Genetic Foundations of Melanoma
Several key genetic factors contribute to the development of melanoma, including:
BRAF Mutations (Present in 50-60% of patients):
- The V600E mutation is particularly significant as it determines the response to targeted therapies.
- At Sapiens Genetics, we conduct detailed analyses using Next-Generation Sequencing (NGS).
NRAS Mutations (Present in 15-20% of patients):
- These mutations are associated with aggressive tumor behavior.
CDKN2A Mutations:
Carriers of the CDKN2A mutation exhibit a 35-fold increased risk of developing melanoma (JAMA Dermatology, 2022).
Found in 40% of familial melanoma cases.
Familial Melanoma and Genetic Counseling
Genetic testing is recommended for individuals with a family history of melanoma, particularly in the following cases:
– Two or more melanoma cases in first-degree relatives.
– A history of multiple primary melanomas.
– Co-diagnosis with pancreatic cancer.
Tests available at Sapiens Genetics include:
1. BRAF/NRAS Target Panel (PCR-based)
2. Comprehensive Cancer Predisposition Panel (NGS)
Early Diagnosis and Screening Strategies
For high-risk individuals, we recommend the following strategies:
– Dermatological examinations.
– Total body digital dermatoscopy.
– Personalized follow-up after genetic counseling.
Genetic Guidance in Treatment
Genetic testing can guide the treatment of melanoma, with specific therapeutic options based on mutation status. The following are some examples:
| Mutation | Treatment Option | Response Rate |
| BRAF V600E | BRAF inhibitor + MEK inhibitor | 70% |
| NRAS | Immunotherapy | 40-50% |
| CDKN2A | Intensive follow-up + surgery | – |
Conclusion and Next Steps
To learn more about your melanoma risk through genetic testing, we encourage you to contact us for further consultation and schedule an appointment.
References:
-NCCN Guidelines v2.2023 – Melanoma
-JAMA Dermatology (2022) – CDKN2A Penetrance Data
-ESMO Guidelines – Targeted Therapies
