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Mutations in Melanoma

Melanoma is one of the cancers with the highest frequency of genetic mutations.

There are several genetic mutation tests available and identifying if your tumour has a mutation can be important in determining your treatment pathway. The genetic tests are performed on a tumour sample from a biopsy.

Mutations can result in abnormal signalling (in the MAPK pathway) which can stimulate the growth of melanoma cells.
Mutated signalling pathways in melanoma cells are targets for therapy.

If no mutation is found the tumour is referred to as “wild type”, meaning no specific gene mutation has been identified in the melanoma tumour.

BRAF

BRAF is a protein found in the cells of your body. It is important for normal cell growth. BRAF is turned on by a special chemical signal. In your melanoma, the BRAF protein has a mutation which means it is ‘on’ all the time. This results in abnormal cell growth and may have led to the development of your melanoma.

The BRAF mutation is found in approximately half of all melanomas and is the most common genetic mutation associated with melanoma. There are several forms of BRAF mutations including V600E, V600K, V600D, V600G and V600R.

NRAS

NRAS is the second most common mutation found in advanced melanoma. These tumours tend to be thicker and grow faster.

c-KIT

C-Kit mutations are most commonly found in Asian populations. They are also more likely to be found in melanomas that start on the palms of the hands, soles of the feet, under nails, inside the mouth and nose, or other mucosal areas.

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