@article{305a81c9d3584f2799919a6ae869f2ff,
title = "Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma",
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.",
author = "Harbour, {J. William} and Roberson, {Elisha D.O.} and Hima Anbunathan and Onken, {Michael D.} and Worley, {Lori A.} and Bowcock, {Anne M.}",
note = "Funding Information: This work was supported by US National Institutes of Health (NIH) grants R01 CA16187001 (A.M.B. and J.W.H.) and CA12597007 (J.W.H.), the Melanoma Research Alliance (J.W.H.), the Melanoma Research Foundation (J.W.H.), the Tumori Foundation (J.W.H.), Research to Prevent Blindness, Inc. (J.W.H.) and awards to the Department of Ophthalmology and Visual Sciences at Washington University from a Research to Prevent Blindness, Inc., Unrestricted grant and the US NIH Vision Core grant P30 EY02687c. E.D.O.R. was supported under US NIH training grant 5 T32 AR007279-32. We thank L. Cao for technical assistance and C. Jordan for exome capture. We thank the patients who volunteered to participate in the study in order to make this work possible. This study was approved by the Human Studies Committee at Washington University in St. Louis, and informed consent was obtained from all subjects.",
year = "2013",
month = feb,
doi = "10.1038/ng.2523",
language = "English (US)",
volume = "45",
pages = "133--135",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",
}