Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
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ABSTRACT:
SUBMITTER: Harbour JW
PROVIDER: S-EPMC3789378 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Publications
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.
Harbour J William JW Roberson Elisha D O ED Anbunathan Hima H Onken Michael D MD Worley Lori A LA Bowcock Anne M AM
Nature genetics 20130113 2
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. ...[more]
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