List of genes mutated in pigmented cutaneous lesions
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A number of genes have been found to be mutated in the various pigmented lesions that occur on human skin.
| Neoplasm | Gene | Type of mutation |
|---|---|---|
| Mucosal melanoma | KIT (CD117) | |
| Skin melanoma | BRAF NRAS | Activating hotspot mutations |
| Familial melanoma syndrome | CDKN2A | |
| Spitz nevus | HRAS | |
| Blue nevus | GNAQ[nb 1] | |
| Port-wine stain | GNAQ[1] |
Footnotes
- ↑ Both blue nevi and uveal melanoma are characterized by mutations in GNAQ .
See also
References
- ↑ Shirley, Matthew D.; Tang, Hao; Gallione, Carol J.; Baugher, Joseph D.; Frelin, Laurence P.; Cohen, Bernard; North, Paula E.; Marchuk, Douglas A.; Comi, Anne M.; Pevsner, Jonathan (8 May 2013). "Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in". New England Journal of Medicine 368 (21): 1971–9. doi:10.1056/NEJMoa1213507. PMID 23656586.
- Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 1-4160-2999-0.
- James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
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