Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Catherine D. Van Raamsdonk, Vladimir Bezrookove, Gary Green, Jürgen Bauer, Lona Gaugler, Joan M. O’Brien, Elizabeth M. Simpson, Gregory S. Barsh and Boris C. Bastian ()
Additional contact information
Catherine D. Van Raamsdonk: University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
Vladimir Bezrookove: Department of Dermatology and Comprehensive Cancer Center,
Gary Green: Department of Dermatology and Comprehensive Cancer Center,
Jürgen Bauer: Department of Dermatology and Comprehensive Cancer Center,
Lona Gaugler: Department of Dermatology and Comprehensive Cancer Center,
Joan M. O’Brien: University of California, San Francisco, California 94143, USA
Elizabeth M. Simpson: University of British Columbia, Vancouver, British Columbia V6T1Z3, Canada
Gregory S. Barsh: Stanford University, Stanford, California 94305, USA.
Boris C. Bastian: Department of Dermatology and Comprehensive Cancer Center,

Nature, 2009, vol. 457, issue 7229, 599-602

Abstract: Mutated in melanomas Mutations in BRAF and NRAS that lead to constitutive activation of MAPK signalling have been found at high frequencies in many melanomas, both benign and malignant. However, they have not been found in uveal melanomas (arising from in the cells that give colour to the eye) or in blue naevi melanomas (a type of benign blue–black mole). Now a genetic screen of biopsy samples shows that these melanoma subtypes instead show frequent activating mutations in the G protein α-subunit GNAQ, also leading to the activation of the MAPK pathway. This identifies signalling components downstream of GNAQ as potential therapeutic targets.

Date: 2009
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DOI: 10.1038/nature07586

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