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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
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Journal Article
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
2013
Overview
William Harbour, Anne Bowcock and colleagues identify recurrent mutations at codon 625 of
SF3B1
in uveal melanomas. These mutations occur in low-grade tumors and are associated with favorable prognosis.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Codon
/ Comparative Genomic Hybridization
/ DNA Copy Number Variations - genetics
/ Grants
/ Humans
/ Identification and classification
/ Melanoma
/ Mutation
/ Phosphoproteins - metabolism
/ Proteins
/ Ribonucleoprotein, U2 Small Nuclear - genetics
/ Ribonucleoprotein, U2 Small Nuclear - metabolism
/ Tumors
