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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Uveal melanoma is a rare form of melanoma that occurs in the eye and has no effective treatment once metastatic. To further characterize the genomic events driving uveal melanoma, whole exome sequencing was performed on 61 primary tumors derived from enucleations, 3 liver metasases, and paired normal DNA. Recurrent somatic genetic alterations including point mutations, small insertions and deletions, as well as copy number variations were identified. In addition, RNA sequencing of uveal melanoma cell lines expressing shRNAs was performed from total RNA as well as polysome-associated mRNA in order to identify transcripts regulated by EIF1AX at the level of translation.
- Study Design:
- Prospective Longitudinal Cohort
- Study Type:
- Cohort
- Total number of consented subjects: 89
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Patients seen at the Massachusetts Eye and Ear Infirmary and the University of Texas MD Anderson Cancer Center with uveal melanoma were included in this study after institutional review board approval and informed patient consent.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Exome Sequencing Agilent SureSelect Human All Exon v.2 Kit N/A N/A Germline and Tumor RNA Sequencing Illumina TruSeq N/A N/A Cell Line - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Melanoma, Uveal
- Links to Related Genes
- Authorized Data Access Requests
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- Study Attribution
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Principal Investigators
- Levi Garraway. Dana-Farber Cancer Institute, Boston, MA, USA. Broad Institute, Cambridge, MA, USA.
- Scott Woodman. University of Texas MD Anderson Cancer Center, Houston, TX, USA.
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Co-Investigators
- Chelsea Place Johnson. Dana-Farber Cancer Institute, Boston, MA, USA. Broad Institute, Cambridge, MA, USA.
- Daniel Treacy. Dana-Farber Cancer Institute, Boston, MA, USA. Broad Institute, Cambridge, MA, USA.
- Ivana Kim. Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
- Bita Esmaeli. MD Anderson Cancer Center, Houston, TX, USA.
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Principal Investigators