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

238 Citations (Scopus)

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
Pages (from-to)133-135
Number of pages3
JournalNature Genetics
Volume45
Issue number2
DOIs
StatePublished - Feb 1 2013

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Codon
Mutation
Eye Neoplasms
Neoplasm Metastasis
Uveal melanoma
RNA Splicing Factors
Genes
Neoplasms

ASJC Scopus subject areas

  • Genetics

Cite this

William Harbour, J., 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

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. / William Harbour, J.; Roberson, Elisha D O; Anbunathan, Hima; Onken, Michael D.; Worley, Lori A.; Bowcock, Anne M.

In: Nature Genetics, Vol. 45, No. 2, 01.02.2013, p. 133-135.

Research output: Contribution to journalArticle

William Harbour, J, Roberson, EDO, Anbunathan, H, Onken, MD, Worley, LA & Bowcock, AM 2013, 'Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma', Nature Genetics, vol. 45, no. 2, pp. 133-135. https://doi.org/10.1038/ng.2523
William Harbour, J. ; Roberson, Elisha D O ; Anbunathan, Hima ; Onken, Michael D. ; Worley, Lori A. ; Bowcock, Anne M. / Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. In: Nature Genetics. 2013 ; Vol. 45, No. 2. pp. 133-135.
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