title: Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
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.
authors: Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA. jwharbour@med.miami.edu
authors: J William
authors: JW
authors: Harbour
authors: Elisha D O
authors: ED
authors: Roberson
authors: Hima
authors: H
authors: Anbunathan
authors: Michael D
authors: MD
authors: Onken
authors: Lori A
authors: LA
authors: Worley
authors: Anne M
authors: AM
authors: Bowcock
mesh_terms: D003062:Codon / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics; D006801:Humans; D053208:Kaplan-Meier Estimate; D008545:Melanoma / Q000235:genetics*; D046228:Microarray Analysis; D009154:Mutation / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics* / Q000378:metabolism; D014604:Uveal Neoplasms / Q000235:genetics*; D000098943:Uveal Melanoma
chemical_list: D003062:Codon; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human