| Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. | |
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MedLine Citation:
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PMID: 23313955 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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J William Harbour; Elisha D O Roberson; Hima Anbunathan; Michael D Onken; Lori A Worley; Anne M Bowcock |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-13 |
Journal Detail:
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Title: Nature genetics Volume: - ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1] Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA. [2] Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA, and Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida, USA. [3]. |
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