{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T18:13:10Z","timestamp":1790273590037,"version":"4.1.0"},"reference-count":21,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ocul Oncol Pathol"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Purpose:<\/i><\/b> To describe the occurrence of bilateral primary uveal melanoma in 2 patients with mutation on the gene encoding BRCA1-associated protein 1 <i>(BAP1)<\/i>. <b><i>Methods:<\/i><\/b> Retrospective chart review of patients with bilateral primary uveal melanoma and subsequent positive germline <i>BAP1<\/i> mutation. <b><i>Results:<\/i><\/b> There were 2 patients with bilateral uveal melanoma and <i>BAP1<\/i> germline positivity. Neither patient demonstrated oculodermal melanocytosis. Patient 1 underwent enucleation of his right eye (OD) at the age of 44 years for a 9.6-mm-thick choroidal melanoma. He returned 4 years later with a 10.0-mm-thick choroidal melanoma in his left eye (OS) and was treated with plaque radiotherapy. He had a strong family history of cancer, and clinical testing for germline <i>BAP1<\/i> mutation identified a pathogenic mutation in <i>BAP1<\/i>. At the 18-month follow-up, visual acuity was 20\/200 OS without evidence of systemic metastasis. Patient 2 initially presented at age 54 years with extensive, diffuse iris melanoma OD, initially treated with plaque radiotherapy, but local recurrence after 3 years necessitated enucleation. Four years later, a 6.0-mm-thick ciliary body melanoma OS was found and successfully treated with plaque radiotherapy. Clinical testing for germline <i>BAP1<\/i> mutation identified a pathogenic mutation in <i>BAP1<\/i>. At the 8-year follow-up, visual acuity was 20\/40 OS without evidence of local recurrence or systemic metastasis. The patient expired secondary to an unrelated brain infarction. <b><i>Conclusion:<\/i><\/b> Bilateral uveal melanoma is exceedingly rare. Patients with bilateral uveal melanoma, especially when coincident with remote systemic cancers or a family history of cancer, should be evaluated for germline <i>BAP1<\/i> mutation. Lifelong monitoring for related systemic malignancies is advised.<\/jats:p>","DOI":"10.1159\/000499570","type":"journal-article","created":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T17:00:34Z","timestamp":1559667634000},"page":"10-14","source":"Crossref","is-referenced-by-count":10,"title":["<b><i>BAP1<\/i><\/b> Germline Mutation Associated with Bilateral Primary Uveal Melanoma"],"prefix":"10.1159","volume":"6","author":[{"given":"Michael\u00a0D.","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babak","family":"Masoomian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry\u00a0A.","family":"Shields","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3288-3632","authenticated-orcid":false,"given":"Carol\u00a0L.","family":"Shields","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,6,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000432"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1959.04220050149023"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1977.04450040083012"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(96)30707-0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-010-1516-5"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12857"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1177\/112067210601600619"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1126\/science.1194472"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12630"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1010734"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e31824d09a8"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/01.cmr.0000222596.50309.4c"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.65.12.843"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(01)00281-8"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1001\/jamasurg.2017.0552"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00292-016-0153-0"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000772"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2015.1119"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005633"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22424"}],"container-title":["Ocular Oncology and Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:29:27Z","timestamp":1745411367000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000499570"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,4]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,14]]},"published-print":{"date-parts":[[2020,1,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000499570","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.737327753.793585165","asserted-by":"object"}]},"ISSN":["2296-4681","2296-4657"],"issn-type":[{"value":"2296-4681","type":"print"},{"value":"2296-4657","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,4]]}}}