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Nat Genet. 2013 Feb;45(2):133-5. doi: 10.1038/ng.2523. Epub 2013 Jan 13.

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

Author information

1
Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA. jwharbour@med.miami.edu

Abstract

Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. 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. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.

PMID:
23313955
PMCID:
PMC3789378
DOI:
10.1038/ng.2523
[Indexed for MEDLINE]
Free PMC Article
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