Article
Molecular profiling of driver events in metastatic uveal melanoma.
Nature communications - 20 Apr 2020
Karlsson Joakim, Nilsson Lisa M, Mitra Suman, Alsén Samuel, Shelke Ganesh Vilas, Sah Vasu R, Forsberg Elin M V, Stierner Ulrika, All-Eriksson Charlotta, Einarsdottir Berglind, Jespersen Henrik, Ny Lars, Lindnér Per, Larsson Erik, Olofsson Bagge Roger, Nilsson Jonas A
Abstract excerpt
Metastatic uveal melanoma is less well understood than its primary counterpart, has a distinct biology compared to skin melanoma, and lacks effective treatments. Here we genomically profile metastatic tumors and infiltrating lymphocytes. BAP1 alterations are overrepresented and found in 29/32 of cases. Reintroducing a functional BAP1 allele into a deficient patient-derived cell line, reveals a broad shift towards...
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