Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at arginine-625 in splicing factor 3B subunit 1 (SF3B1) in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group o...

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Detalles Bibliográficos
Autores principales: Harbour, J. William, Roberson, Elisha D. O., Anbunathan, Hima, Onken, Michael D., Worley, Lori A., Bowcock, Anne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789378/
https://www.ncbi.nlm.nih.gov/pubmed/23313955
http://dx.doi.org/10.1038/ng.2523
Descripción
Sumario:Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at arginine-625 in splicing factor 3B subunit 1 (SF3B1) in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutation, and these mutations denote a distinct molecular subset of uveal melanomas.

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