{"doi":"10.1371/journal.pone.0306386","title":"Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants","abstract":"Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated differences between germline BAP1 variant carriers compared to sporadic cases. The frequency of the main oncogenic driver mutations was not significantly different between these groups. Patients with germline BAP1 variants did not have significantly different overall survival compared to the wildtype or somatic BAP1 mutation groups. Patients with a somatic BAP1 mutation (n = 24) had a significantly worse prognosis compared to wildtype (n = 58). All patients with stage III tumors and a somatic BAP1 mutation (n = 7) developed metastasis, however four of 28 stage I-II tumors without metastasis had somatic BAP1 mutations, with observation time >5 years. The tumor from one germline BAP1 carrier (stage IIIC) with a somatic EIF1AX splice variant, has not developed metastasis within a 22-year observation time.","journal":"PLOS ONE","year":2024,"id":19706,"datarank":0.16622677344185136,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.06225469635785954,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.06225469635785954,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":1,"citers_with_citation_signal":1,"citers_with_endowment":1,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":132610,"name":"Katja Harbst","orcid":null,"position":1,"is_corresponding":false},{"id":132611,"name":"Mette M. B. Sjøl","orcid":null,"position":2,"is_corresponding":false},{"id":132612,"name":"Frida Rosengren","orcid":null,"position":3,"is_corresponding":false},{"id":132613,"name":"Christina Westmose Yde","orcid":null,"position":4,"is_corresponding":false},{"id":132614,"name":"Kristoffer Staal Rohrberg","orcid":null,"position":5,"is_corresponding":false},{"id":132615,"name":"Marlene Richter Jensen","orcid":null,"position":6,"is_corresponding":false},{"id":132616,"name":"Steffen Heegaard","orcid":null,"position":7,"is_corresponding":false},{"id":132617,"name":"Jens Folke Kiilgaard","orcid":null,"position":8,"is_corresponding":false},{"id":132618,"name":"Anne-Marie Gerdes","orcid":null,"position":9,"is_corresponding":false},{"id":69994,"name":"Nicholas Hayward","orcid":null,"position":10,"is_corresponding":false},{"id":132619,"name":"Göran B. Jönsson","orcid":null,"position":11,"is_corresponding":false},{"id":132609,"name":"Karin A. W. Wadt","orcid":"0000-0003-2882-6798","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"39378214","pmcid":"PMC11460691","openalex_id":"https://openalex.org/W4403213588","authors":[],"funders":[{"funder_name":"Fight for Sight","grant_id":"","title":null},{"funder_name":"National Health and Medical Research Council","grant_id":"","title":null}],"total_grants":2,"fwci":0.4729,"citation_percentile":0.66895369,"influential_citations":0,"citation_trend":[{"year":2025,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.1371/journal.pone.0306386","host_type":"journal"},{"url":"https://doi.org/10.1371/journal.pone.0306386","host_type":"GOLD"},{"url":"https://doi.org/10.1371/journal.pone.0306386","host_type":"publisher"},{"url":"https://dx.plos.org/10.1371/journal.pone.0306386","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/39378214","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11460691","host_type":"repository"},{"url":"https://doaj.org/article/87977d059e0840398794f55d0a694613","host_type":"repository"},{"url":"https://lup.lub.lu.se/record/1c951835-6d54-4ed1-a94a-7f3cf32884d0","host_type":"repository"},{"url":"https://researchprofiles.ku.dk/da/publications/83eecbd1-ee71-4bea-bf0a-724f4c5f6b90","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11460691/pdf/pone.0306386.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11460691","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11460691?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Ocular Oncology and Treatments","Immunotherapy and Immune Responses","Bladder and Urothelial Cancer Treatments","Medicine","Humans","Ubiquitin Thiolesterase","Melanoma","Uveal Neoplasms","Tumor Suppressor Proteins","Germ-Line Mutation","Male","Female","Middle Aged","Aged","Adult","Prognosis","Aged, 80 and over","Uveal Melanoma"],"mesh_terms":["Uveal Melanoma","Adult","Aged","Aged, 80 and over","Female","Humans","Male","Melanoma","Middle Aged","Prognosis","Uveal Neoplasms","Germ-Line Mutation","Tumor Suppressor Proteins","Ubiquitin Thiolesterase"],"keywords":["BAP1","Germline mutation","Germline","Somatic cell","Melanoma","Cancer research","Metastasis","Mutation","Biology","GNAQ","Cancer","Genetics","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-04T05:30:40.690432Z","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":[]}