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Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases.

Ophthalmology - 1 May 2016

Yavuzyigitoglu Serdar, Koopmans Anna E, Verdijk Robert M, Vaarwater Jolanda, Eussen Bert, van Bodegom Alice, Paridaens Dion, Kiliç Emine, de Klein Annelies

Abstract excerpt

PURPOSE: To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients. DESIGN: Case series. PARTICIPANTS: Cohort of 151 patients diagnosed with and treated for UM. METHODS: SF3B1 and EIF1AX mutations in primary tumors were investigated using whole-exome sequencing (n = 25) and Sanger sequencing (n = 151). For the detection of BAP1 mutations, a previously...

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PMID: 26923342
DOI: 10.1016/j.ophtha.2016.01.023

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BAP1

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