Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma

Ophthalmology. 2017 Apr;124(4):573-575. doi: 10.1016/j.ophtha.2016.10.039. Epub 2016 Dec 1.

Authors

Serdar Yavuzyigitoglu¹, Wojtek Drabarek¹, Kyra N Smit¹, Natasha van Poppelen¹, Anna E Koopmans², Jolanda Vaarwater¹, Tom Brands³, Bert Eussen³, Hendrikus J Dubbink⁴, Job van Riet⁵, Harmen J G van de Werken⁵, Berna Beverloo³, Robert M Verdijk⁴, Nicole Naus², Dion Paridaens⁶, Emine Kilic², Annelies de Klein⁷; Rotterdam Ocular Melanoma Study Group

Affiliations

¹ Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, the Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
² Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, the Netherlands.
³ Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
⁴ Department of Pathology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.
⁵ Cancer Computational Biology Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands; Department of Urology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.
⁶ The Rotterdam Eye Hospital, Rotterdam, the Netherlands.
⁷ Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands. Electronic address: a.deklein@erasmusmc.nl.

PMID: 27916271
DOI: 10.1016/j.ophtha.2016.10.039

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations*
DNA Copy Number Variations*
DNA Mutational Analysis
DNA, Neoplasm / genetics
Eukaryotic Initiation Factor-1 / genetics*
Female
Gene Expression Profiling
Humans
Karyotyping
Male
Melanoma / genetics*
Mutation*
Phosphoproteins / genetics*
Polymorphism, Single Nucleotide
RNA Splicing Factors / genetics*
Tumor Suppressor Proteins / genetics*
Ubiquitin Thiolesterase / genetics*
Uveal Neoplasms / genetics*

Substances

BAP1 protein, human
DNA, Neoplasm
Eukaryotic Initiation Factor-1
Phosphoproteins
RNA Splicing Factors
SF3B1 protein, human
Tumor Suppressor Proteins
eukaryotic peptide initiation factor-1A
Ubiquitin Thiolesterase

Supplementary concepts

Uveal melanoma