{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Anbunathan H"],"funding":["NCI","NCI NIH HHS"],"pagination":["5156-5166"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6697622"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(16)"],"pubmed_abstract":["<h4>Purpose</h4>Uveal melanoma is a primary malignancy of the eye with oncogenic mutations in <i>GNAQ, GNA11, or CYSLTR2</i>, and additional mutations in <i>BAP1</i> (usually associated with LOH of Chr 3), <i>SF3B1</i>, or <i>EIF1AX</i>. There are other characteristic chromosomal alterations, but their significance is not clear.<h4>Experimental design</h4>To investigate genes driving chromosomal alterations, we integrated copy number, transcriptome, and mutation data from three cohorts and followed up key findings.<h4>Results</h4>We observed significant enrichment of transcripts on chromosomes 1p, 3, 6, 8, and 16q and identified seven shared focal copy number alterations (FCNAs) on Chr 1p36, 2q37, 3, 6q25, 6q27, and 8q24. Integrated analyses revealed clusters of genes in focal copy number "],"journal":["Clinical cancer research : an official journal of the American Association for Cancer Research"],"pubmed_title":["Integrative Copy Number Analysis of Uveal Melanoma Reveals Novel Candidate Genes Involved in Tumorigenesis Including a Tumor Suppressor Role for <i>PHF10/BAF45a</i>."],"pmcid":["PMC6697622"],"funding_grant_id":["R01CA125970","R01 CA161870","R01 CA125970","R01CA161870","CA1667"],"pubmed_authors":["Bowcock AM","Anbunathan H","Harbour JW","Singh AD","Verstraten R"],"additional_accession":[]},"is_claimable":false,"name":"Integrative Copy Number Analysis of Uveal Melanoma Reveals Novel Candidate Genes Involved in Tumorigenesis Including a Tumor Suppressor Role for <i>PHF10/BAF45a</i>.","description":"<h4>Purpose</h4>Uveal melanoma is a primary malignancy of the eye with oncogenic mutations in <i>GNAQ, GNA11, or CYSLTR2</i>, and additional mutations in <i>BAP1</i> (usually associated with LOH of Chr 3), <i>SF3B1</i>, or <i>EIF1AX</i>. There are other characteristic chromosomal alterations, but their significance is not clear.<h4>Experimental design</h4>To investigate genes driving chromosomal alterations, we integrated copy number, transcriptome, and mutation data from three cohorts and followed up key findings.<h4>Results</h4>We observed significant enrichment of transcripts on chromosomes 1p, 3, 6, 8, and 16q and identified seven shared focal copy number alterations (FCNAs) on Chr 1p36, 2q37, 3, 6q25, 6q27, and 8q24. Integrated analyses revealed clusters of genes in focal copy number ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Aug","modification":"2026-05-07T01:59:27.663Z","creation":"2020-05-22T10:30:22Z"},"accession":"S-EPMC6697622","cross_references":{"pubmed":["31227497"],"doi":["10.1158/1078-0432.CCR-18-3052","10.1158/1078-0432.ccr-18-3052"]}}