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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
Jan 2013
Nat Genet 2013;45:133-5.
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Jun 2013
Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma
Apr 2016
Nat Genet 2016;48:675-80.
Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families
Apr 2012
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases
Jun 2015
Clin Genet 2016;89:285-94.
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
Dec 2008
Nature 2009;457:599-602
Mutations in GNA11 in Uveal Melanoma
Dec 2010
Of the uveal melanomas we analyzed, 83% had somatic mutations in GNAQ or GNA11. Constitutive activation of the pathway involving these two genes appears to be a major contributor to the development of uveal melanoma. (Funded by the National Institutes of Health and others.)