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.

Author: Furney SJ, et al.

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. 

Author: Martin M, et al.

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.

Author: Harbour JW, et al.

Publication: PLOS Currents

Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases

Mar 2013

Author: Aoude LG, et al.

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.

Author: Harbour JW, et al.

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).

Author: Onken MD, et al.

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.

Author: Gill HS, et al.

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.

Author: Chappell MC, et al.

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.

Author: Njauw CN, et al.

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.

Author: Abdel-Rahman MH, et al.

Publication: Journal of Medical Genetics

Frequent mutation of BAP1 in metastasizing uveal melanomas

Dec 2010

Author: Harbour JW, et al.

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.

Author: Van Raamsdonk CD, et al.

Publication: The New England Journal of Medicine