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

J. William Harbour, Elisha D.O. Roberson, Hima Anbunathan, Michael D. Onken, Lori A. Worley, Anne M. Bowcock

Research output: Contribution to journalArticle

258 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)133-135
Number of pages3
JournalNature genetics
Volume45
Issue number2
DOIs
StatePublished - Feb 2013

ASJC Scopus subject areas

  • Genetics

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    Harbour, J. W., Roberson, E. D. O., Anbunathan, H., Onken, M. D., Worley, L. A., & Bowcock, A. M. (2013). Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nature genetics, 45(2), 133-135. https://doi.org/10.1038/ng.2523