Genetics

A number of genetic factors are being investigated for their role in melanomas, including inherited genes and genetic defects that are acquired from environmental causes (particularly sunlight).

Mutations in Genes  

Non-inherited mutations in a number of genes that inhibit tumour growth or other cell-protecting properties may account for cancerous changes in moles and for aggressive melanomas. The following are some examples.

• Important studies have now identified a mutation in the BRAF gene that appears to be the most common event in the process that leads to melanoma. Some researchers have observed mutations in 66% of melanomas. Researchers hope that agents that block this gene may provide a viable treatment option.
• P16 is a tumour suppressive gene that may be abnormal in some melanoma cases.
• CDKN2A Mutations. Mutations in a genetic regulator called CDKN2A are the most common causes of inherited melanoma (which accounts for only a small proportion of melanoma patients). Mutations in this gene also appear in non-inherited cases of melanoma. Genetic tests are being developed for CDKN2A.