Journal
NATURE GENETICS
Volume 45, Issue 2, Pages 133-135Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2523
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Funding
- US National Institutes of Health (NIH) [R01 CA16187001, CA12597007]
- Melanoma Research Alliance
- Melanoma Research Foundation
- Tumori Foundation
- Research to Prevent Blindness, Inc.
- US NIH Vision Core grant [P30 EY02687c]
- US NIH training grant [5 T32 AR007279-32]
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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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