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

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon / genetics
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations / genetics
  • Humans
  • Kaplan-Meier Estimate
  • Melanoma / genetics*
  • Microarray Analysis
  • Mutation / genetics
  • Phosphoproteins / genetics*
  • Phosphoproteins / metabolism
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear / genetics*
  • Ribonucleoprotein, U2 Small Nuclear / metabolism
  • Uveal Neoplasms / genetics*

Substances

  • Codon
  • Phosphoproteins
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human

Supplementary concepts

  • Uveal melanoma

Associated data

  • GEO/GSE39717
  • GEO/GSE42740