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Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations
Aug 2015
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.)