{"doi":"10.17615/mj7c-5758","title":"Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma","abstract":"Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.","journal":"UNC Libraries","year":2021,"id":211484,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9454,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":697577,"name":"I. Felau","orcid":null,"position":1,"is_corresponding":false},{"id":801432,"name":"Jamison Shih","orcid":null,"position":2,"is_corresponding":false},{"id":801433,"name":"J.E. Gershenwald","orcid":null,"position":3,"is_corresponding":false},{"id":716130,"name":"T.M. Lichtenberg","orcid":null,"position":4,"is_corresponding":false},{"id":624490,"name":"A.J. Lazar","orcid":null,"position":5,"is_corresponding":false},{"id":697569,"name":"J.C. Zenklusen","orcid":null,"position":6,"is_corresponding":false},{"id":697564,"name":"L. Iype","orcid":null,"position":7,"is_corresponding":false},{"id":697557,"name":"R. Akbani","orcid":null,"position":8,"is_corresponding":false},{"id":801434,"name":"K.G. Griewank","orcid":null,"position":9,"is_corresponding":false},{"id":801435,"name":"M.D. Williams","orcid":null,"position":10,"is_corresponding":false},{"id":624492,"name":"A.D. Cherniack","orcid":null,"position":11,"is_corresponding":false},{"id":801436,"name":"J.M. Hess","orcid":null,"position":12,"is_corresponding":false},{"id":801437,"name":"P.K. Kimes","orcid":null,"position":13,"is_corresponding":false},{"id":801438,"name":"L. Schoenfield","orcid":null,"position":14,"is_corresponding":false},{"id":801439,"name":"V. Uzunangelov","orcid":null,"position":15,"is_corresponding":false},{"id":801440,"name":"M. Kucherlapati","orcid":null,"position":16,"is_corresponding":false},{"id":800956,"name":"Michelle T. Tang","orcid":"0000-0002-3121-2933","position":17,"is_corresponding":false},{"id":801441,"name":"C.A. Bristow","orcid":null,"position":18,"is_corresponding":false},{"id":801442,"name":"S.E. Coupland","orcid":null,"position":19,"is_corresponding":false},{"id":696973,"name":"L. A. Danilova","orcid":"0009-0007-0703-8748","position":20,"is_corresponding":false},{"id":9898,"name":"A. Penson","orcid":null,"position":21,"is_corresponding":false},{"id":801443,"name":"M.J. Jager","orcid":null,"position":22,"is_corresponding":false},{"id":794646,"name":"C. Benz","orcid":null,"position":23,"is_corresponding":false},{"id":1721,"name":"G.B. Mills","orcid":null,"position":24,"is_corresponding":false},{"id":801444,"name":"C. Kandoth","orcid":null,"position":25,"is_corresponding":false},{"id":801445,"name":"R.G.W. Verhaak","orcid":null,"position":26,"is_corresponding":false},{"id":801446,"name":"S. Roman-Roman","orcid":null,"position":27,"is_corresponding":false},{"id":801447,"name":"B. Esmaeli","orcid":null,"position":28,"is_corresponding":false},{"id":801448,"name":"J. Oba","orcid":null,"position":29,"is_corresponding":false},{"id":697538,"name":"A.G. Robertson","orcid":null,"position":30,"is_corresponding":false},{"id":697531,"name":"TCGA Research Network","orcid":null,"position":31,"is_corresponding":false},{"id":801449,"name":"Mingkai Chang","orcid":null,"position":32,"is_corresponding":false},{"id":801450,"name":"C.M. Cebulla","orcid":null,"position":33,"is_corresponding":false},{"id":801451,"name":"S.E. Woodman","orcid":null,"position":34,"is_corresponding":false},{"id":697537,"name":"E.A. Gibb","orcid":null,"position":35,"is_corresponding":false},{"id":801452,"name":"M.H. Abdel-Rahman","orcid":null,"position":36,"is_corresponding":false},{"id":1870,"name":"Katherine A. Hoadley","orcid":"0000-0002-1216-477X","position":37,"is_corresponding":false},{"id":794627,"name":"C. Yau","orcid":null,"position":38,"is_corresponding":false},{"id":801453,"name":"O. Babur","orcid":null,"position":39,"is_corresponding":false},{"id":801454,"name":"M.-H. Stern","orcid":null,"position":40,"is_corresponding":false},{"id":794629,"name":"K.L. Mungall","orcid":null,"position":41,"is_corresponding":false},{"id":794623,"name":"V. Walter","orcid":null,"position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:52:20.112538Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}