Genes and melanoma

Author: Hon A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand, 2011.

Although the main cause of melanoma is the sun, genes are important too. Molecular genetic study of melanoma (genomics) is rapidly increasing our understanding of the disease and how to treat it. It's a very complicated field of research. This page is a short description of why genomics are important.

Genes are damaged by UVR

Exposure to UV radiation, particularly to UVA (long-wave ultraviolet radiation) causes changes in our melanocyte (pigment cell) genes.

There are likely to be many other triggers to account for the rare forms of melanoma that are not related to sun exposure.

Genetic and chromosomal changes can include:

Genetic changes might cause the melanocyte cells to:

There are numerous different genetic alterations in primary and secondary melanoma.

Driver mutations

Common driver or initiating mutations are described below. Understanding driver mutations is leading to new treatments for advanced melanoma.

Genes explain familial melanoma

Some families are said to have familial melanoma, which is due to mutations in genes that are passed down from parent to child. Melanoma caused by inherited genes is suspected if two or more first-degree relatives (parent, brother, sister or child) are diagnosed with melanoma.

Several specific mutations have been described in different families with melanoma. About 40% have mutations in the CDKN2A gene. Affected members of families with this abnormality tend to have many large moles.

Genes explain skin colour

Skin colour partly depends on the activity of the melanocortin 1 receptor (MC1R) gene.

Related information

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