On Demand Education

Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations

Aug 2015

Gupta MP, Lane AM, DeAngelis MM, et al.

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

Jan 2013

Nat Genet 2013;45:133-5.

Harbour JW, Roberson ED, Anbunathan H, et al.

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

Johansson P, Aoude LG, Wadt K, et al.

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

Jun 2013

Martin M, Masshofer L, Temming P, et al.

Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma

Apr 2016

Nat Genet 2016;48:675-80.

Moore AR, Ceraudo E, Sher JJ, et al.

Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families

Apr 2012

Njauw CN, Kim I, Piris A, et al.

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

Jun 2015

Clin Genet 2016;89:285-94.

Rai K, Pilarski R, Cebulla CM, et al.

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Dec 2008

Nature 2009;457:599-602

Van Raamsdonk CD, Bezrookove V, Green G, et al.

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.)

Van Raamsdonk CD, Griewank KG, Crosby MB, et al.

Castle Biosciences Genomic Testing for Uveal Melanoma

Katherina Alsina, PhD