Article
Molecular profiling of primary uveal melanoma: results of a Polish cohort.
Melanoma research - 1 Apr 2023
Kowalik Artur, Karpinski Pawel, Markiewicz Anna, Orlowska-Heitzman Jolanta, Romanowska-Dixon Bozena, Donizy Piotr, Hoang Mai P
Abstract excerpt
There is no published data regarding the molecular alterations of Polish patients with primary uveal melanoma. We performed whole exome sequencing of 20 primary uveal melanomas (UMs), 10 metastasizing and 10 non-metastasizing cases to identify significant molecular alterations. We detected mutations and copy number variants in the BAP1 gene in 50% (10 cases) of the cases. GNA11 mutations were detected in 50% (10...
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