List of genes mutated in pigmented cutaneous lesions

From Wikipedia, the free encyclopedia
Jump to: navigation, search

A number of genes have been found to be mutated in the various pigmented lesions that occur on human skin.

Genes mutated in pigmented cutaneous lesions
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]


  1. ^ Both blue nevi and uveal melanoma are characterized my mutations in GNAQ .

See also[edit]


  1. ^ 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.