scispace - formally typeset
Open AccessJournal ArticleDOI

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

TLDR
Using exome sequencing, recurrent somatic mutations in EIF1AX and SF3B1 are identified occurring in uveal melanomas with disomy 3, which rarely metastasize and are associated with poor prognosis.
Abstract
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.

read more

Citations
More filters
Journal ArticleDOI

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.

Daniel J. Brat, +306 more
TL;DR: The integration of genomewide data from multiple platforms delineated three molecular classes of lower-grade gliomas that were more concordant with IDH, 1p/19q, and TP53 status than with histologic class.
Journal ArticleDOI

Integrated Genomic Characterization of Papillary Thyroid Carcinoma

Nishant Agrawal, +242 more
- 23 Oct 2014 - 
TL;DR: The genomic landscape of 496 PTCs is described and a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties is proposed, which has the potential to improve their pathological classification and better inform the management of the disease.
Journal ArticleDOI

The Genetic Evolution of Melanoma from Precursor Lesions

TL;DR: The succession of genetic alterations during melanoma progression was defined, showing distinct evolutionary trajectories for different melanoma subtypes, and an intermediate category of melanocytic neoplasia was identified, characterized by the presence of more than one pathogenic genetic alteration and distinctive histopathological features.
Journal ArticleDOI

Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers

TL;DR: These data support a model of tumorigenesis whereby PDTCs and ATCs arise from well-differentiated tumors through the accumulation of key additional genetic abnormalities, many of which have prognostic and possible therapeutic relevance.
Journal ArticleDOI

RNA in cancer.

TL;DR: The regulation of gene expression by coding and non-coding RNA is introduced and both established and emerging roles for RNAs in cancer are discussed, highlighting the potential mechanisms by which these RNA subtypes contribute to cancer.
References
More filters
Journal ArticleDOI

Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution.

TL;DR: Global translation initiation sequencing is presented, applying in parallel the ribosome E-site translation inhibitors lactimidomycin and cycloheximide to achieve simultaneous detection of both initiation and elongation events on a genome-wide scale.
Journal ArticleDOI

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

TL;DR: utations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis are described.
Journal ArticleDOI

Eukaryotic Initiation Factor 2 Phosphorylation and Translational Control in Metabolism

TL;DR: This review highlights the translational control processes regulated by nutritional stress, with an emphasis on the events triggered by eIF2α~P, and describes the family of eukaryotic initiation factor 2 kinases and the mechanisms by which each sense different stresses.
Related Papers (5)