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Scientific evidence
SF3B1 mutations are associated with alternative splicing in uveal melanoma
Oct 2013
Our data show that despite its dismal prognosis, uveal melanoma is a relatively simple genetic disease characterized by recurrent chromosomal losses and gains and a low mutational burden. We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing.
Publication: Cancer Discovery
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Jun 2013
Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize.
Publication: Nature Genetics
The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma
Apr 2013
Uveal melanoma (UM) is the most common primary cancer of the eye and has a strong propensity for metastasis. Although there have been many recent improvements in the diagnosis and treatment of UM, and only 2-4% of patients present with detectable metastasis, up to half of patients are at risk for dying of metastatic disease.
Publication: PLOS Currents
Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases
Mar 2013
Publication: Pigment Cell Melanoma Res
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
Jan 2013
Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis.
Publication: Nature Genetics
Collaborative ocular oncology group report no. 1: prospective validation of a multi-gene prognostic assay in uveal melanoma
Aug 2012
This study evaluates the prognostic performance of a 15 gene expression profiling (GEP) assay that assigns primary posterior uveal melanomas to prognostic subgroups: class 1 (low metastatic risk) and class 2 (high metastatic risk).
Publication: Ophthalmology
Uveal melanoma prognostication: from lesion size and cell type to molecular class
Jun 2012
To review the evidence for molecular genetic testing of uveal melanoma in the context of prognostic indicators of metastasis and tumour-related mortality.
Publication: Canadian Journal of Ophthalmology
Uveal melanoma: molecular pattern, clinical features, and radiation response
Apr 2012
To characterize the clinical spectrum of class 1 and class 2 uveal melanomas and their relationship with intraocular proton radiation response.
Publication: American Journal of Ophthalmology
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families
Apr 2012
BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that familial permeation of deleterious alleles could delineate a new cancer syndrome.
Publication: PLoS ONE
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Dec 2011
Objective: To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer.
Publication: Journal of Medical Genetics
Frequent mutation of BAP1 in metastasizing uveal melanomas
Dec 2010
Publication: Science
Mutations in GNA11 in uveal melanoma
Dec 2010
Uveal melanoma is the most common intraocular cancer. There are no effective therapies for metastatic disease. Mutations in GNAQ, the gene encoding an alpha subunit of heterotrimeric G proteins, are found in 40% of uveal melanomas.
Publication: The New England Journal of Medicine