Article
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.
Pigment cell & melanoma research - 1 Jan 2025
Repo Pauliina E, Jakkula Eveliina, Hiltunen Juho, Putkuri Heidi, Staskiewicz-Tuikkanen Aleksandra, Järvinen Reetta-Stiina, Täll Martin, Raivio Virpi, Al-Jamal Rana'a T, Kivelä Tero T, Turunen Joni A
Abstract excerpt
Uveal melanoma (UM) is a rare yet aggressive eye cancer causing over 50% mortality from metastasis. Familial UM, amounting to 1%-6% 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 BAP1 and MBD4, by using targeted amplicon...
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