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Familial UM, amounting to 1%\u20136% of patients in Finland and the United States, mostly lack identified genetic cause, while 8% show associations with other cancer syndromes. We searched novel genetic associations for predisposition to UM, additional to already studied <jats:italic>BAP1<\/jats:italic> and <jats:italic>MBD4<\/jats:italic>, by using targeted amplicon sequencing of 19 genes associated with UM, BAP1, or renal cell carcinoma in 270 consecutively enrolled Finnish patients with UM. Key UM drivers <jats:italic>GNAQ<\/jats:italic>, <jats:italic>GNA11<\/jats:italic>, <jats:italic>CYSLTR2<\/jats:italic>, <jats:italic>PLCB4<\/jats:italic>, <jats:italic>EIF1AX<\/jats:italic>, and <jats:italic>SF3B1<\/jats:italic> lacked pathogenic germline variants. One patient carried the pathogenic <jats:italic>BRCA1<\/jats:italic> variant c.3626del p.(Leu1209*), and one harbored a novel truncating <jats:italic>MET<\/jats:italic> variant c.252C\u2009&gt;\u2009G p.(Tyr84*), classified as likely pathogenic. <jats:italic>FLCN<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>, previously identified with pathogenic variants in patients with UM, did not have such variants in our cohort. Two patients were heterozygous for a pathogenic recessive <jats:italic>BLM<\/jats:italic> variant c.2824\u20102A\u2009&gt;\u2009T. None of the carriers of identified variants had familial UM. We identified <jats:italic>BRCA1<\/jats:italic> and <jats:italic>MET<\/jats:italic> as genes with pathogenic germline variants in Finnish UM patients, each with a frequency of 0.4% (95% confidence interval, 0\u20132).<\/jats:p>","DOI":"10.1111\/pcmr.13198","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T06:04:36Z","timestamp":1727676276000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Pathogenic Germline Variants in Uveal Melanoma Driver and <scp>BAP1<\/scp>\u2010Associated Genes in Finnish Patients with Uveal Melanoma"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9257-9376","authenticated-orcid":false,"given":"Pauliina E.","family":"Repo","sequence":"first","affiliation":[{"name":"Eye Genetics Group, Folkh\u00e4lsan Research Center, Biomedicum Helsinki  Helsinki Finland"},{"name":"Ocular Oncology Service, Department of Ophthalmology 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Biomedicum Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta\u2010Stiina","family":"J\u00e4rvinen","sequence":"additional","affiliation":[{"name":"Eye Genetics Group, Folkh\u00e4lsan Research Center, Biomedicum Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"T\u00e4ll","sequence":"additional","affiliation":[{"name":"Ocular Oncology Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virpi","family":"Raivio","sequence":"additional","affiliation":[{"name":"Ocular Oncology Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana'a T.","family":"Al\u2010Jamal","sequence":"additional","affiliation":[{"name":"Ocular Oncology Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1198-4394","authenticated-orcid":false,"given":"Tero T.","family":"Kivel\u00e4","sequence":"additional","affiliation":[{"name":"Ocular Oncology Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joni A.","family":"Turunen","sequence":"additional","affiliation":[{"name":"Eye Genetics Group, Folkh\u00e4lsan Research Center, Biomedicum Helsinki  Helsinki Finland"},{"name":"Ophthalmic Genetics and Rare eye Diseases Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki 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