Understand the molecular aspects of skin cancer and knowing the biomarkers and genetic mutations associated with this pathology is becoming essential for clinical research and the development of more targeted and effective treatments. The genes whose mutations are currently most likely to influence skin cancer treatment are BRAF, c-KIT, and NRAS.

What is a BRAF V600E or 600K melanoma?

Some skin cancers, melanomas, can be characterized by a BRAF gene mutation, called V600E mutation or V600K. This mutation is then responsible for the uncontrolled proliferation of melanoma cells. More than 50% of melanoma patients carry this mutation, which makes the cancer more aggressive. Therapies that target this mutation by blocking the activity of the mutated BRAF protein include, for example, the following treatments: Vemurafenib (Zelboraf®), Dabrafenib (Tafinlar®), Encorafenib (Braftovi®)...

It is essential to know the mutational status of BRAF, especially when looking forclinical trials. This mutation is sought by various techniques such asimmunohistochemistry (IHC) Or the NGS sequencing. This information can be found on the pathologic report or on a consultation report.

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C-KIT mutations

This mutation is very rare; present in less than 1% of melanomas. To treat patients with melanoma who carry a C-KIT mutation, an iC-KIT inhibitor termed Imatinib (Glivec®) is often used. The Nilotinib (Tasigna®) may also be administered.

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Les clinical trials open for skin cancer biomarkers and genetic mutations are present on Klineo.

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Sources: Arcagy-gyneco, National Cancer Institute