Michael D. Onken

TL;DR: Exome capture coupled with massively parallel sequencing is used to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye and implicate loss of BAP1 in uveAL melanoma metastasis and suggest that the BAP 1 pathway may be a valuable therapeutic target.

TL;DR: It is shown that primary uveal melanomas surprisingly cluster into two distinct molecular classes based on gene expression profile, and this molecular classification strongly predicts metastatic death and outperforms other clinical and pathological prognostic indicators.

TL;DR: utations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis are described.

TL;DR: The GEP assay had a high technical success rate and was the most accurate prognostic marker among all of the factors analyzed and provided a highly significant improvement in prognostic accuracy over clinical TNM classification and chromosome 3 status.

TL;DR: GNAQ mutations occur in about half of UMs, representing the most common known oncogenic mutation in this cancer, and provide new insights into UM pathogenesis and could lead to new therapeutic possibilities.