{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T03:41:31Z","timestamp":1784864491470,"version":"3.55.0"},"reference-count":60,"publisher":"Georg Thieme Verlag KG","issue":"07","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Monbl Augenheilkd"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Over the last ten years, much has been learnt about the genetic characteristics and genetic evolution of uveal melanoma. It has been shown that uveal melanoma differs fundamentally from non-uveal melanoma and is an independent genetic subtype. Compared to other tumours, uveal melanoma has a low mutational burden. There are recurring chromosomal aberrations with losses of 1p, 6q, 8p and 16q, gains of 6p and 8q, and the presence of monosomy 3. GNAQ, GNA11, PLCB4, CYSLTR2, MAPKAPK5, as well as mutations in BAP1, SF3B1, SRSF2 and EIF1AX, the latter being linked to a higher risk of metastasis, have been identified as significantly mutated genes. In rare cases, a BAP1 germline mutation may also be present. In addition to higher risk of uveal melanoma, this variant is also linked with other tumours. In this case, additional work-up, genetic counselling and screening of family members should be offered. While\n\t\t\t\t\tthe knowledge about the genetic characteristics of uveal melanoma is already routinely used for diagnostic and prognostic purposes, targeted genotype-dependent therapy of uveal melanoma is currently still missing.<\/jats:p>","DOI":"10.1055\/a-1513-0789","type":"journal-article","created":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T22:30:28Z","timestamp":1628634628000},"page":"773-780","source":"Crossref","is-referenced-by-count":13,"title":["The Genetics of Uveal Melanoma: Overview and Clinical Relevance"],"prefix":"10.1055","volume":"238","author":[{"given":"Aline Isabel","family":"Riechardt","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Augenheilkunde, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Deutschland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Erasmus Medical Center, Rotterdam, Niederlande"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia M.","family":"Joussen","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Augenheilkunde, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Deutschland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,8,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"3614039","DOI":"10.1155\/2020\/3614039","article-title":"Epidemiological Study of Uveal Melanoma from US Surveillance, Epidemiology, and End Results Program (2010\u20132015)","volume":"2020","author":"Y Xu","year":"2020","journal-title":"J Ophthalmol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1159\/000480640","article-title":"Uveal Melanoma: 5-Year Update on Incidence, Treatment, and Survival (SEER 1973\u20132013)","volume":"4","author":"M E Aronow","year":"2018","journal-title":"Ocul Oncol 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