Early genetic evolution of driver mutations in uveal melanoma

Uveal melanoma (UM) is an aggressive cancer of the eye that frequently results in metastatic death. UMs are most likely to metastasize when they are small, at a time when they are difficult to distinguish from benign nevi and often observed without treatment. Unfortunately, little is known about the early genetic evolution of UM or potential biomarkers to indicate small tumors undergoing malignant transformation. Here, we performed targeted next generation sequencing for the 7 canonical UM driver mutations in 1140 primary UMs, including 131 small early-stage tumors. We found that the evolutionary burst of genetic aberrations that determines the archetypal UM subtypes and metastatic propensity has already occurred by the time most small tumors are biopsied, although a significantly larger proportion of small tumors are still evolving compared to larger tumors. We found that the 15-gene expression profile (15-GEP) support vector machine discriminant score was the best indicator of tumors ..., , , # Data from: Early genetic evolution of driver mutations in uveal melanoma

Dataset DOI: [10.5061/dryad.z8w9ghxqk](10.5061/dryad.z8w9ghxqk)

## Description of the data and file structure

### Files and variables

#### File: DryadUpload_SupplementaryInformationSData1-4_v14.xlsx

**Description:** The \"Description\" tab outlines contents, along with important abbreviations and details for the Supplementary Data. The tabs following the Description tab include Supplementary Data 1-4 (large data tables from the manuscript). Supplementary Data 1 includes a table of baseline clinical annotations, patient outcomes, and genetic features for all study subjects (n = 1140 cases). Supplementary Data 2 includes statistical analysis of uveal melanoma-associated mutations for all study subjects (n = 1140 cases). Supplementary Data 3 includes statistical analysis of small tumors (n = 131 cases) versus larger tumors (n = 1009 cases). Supplementary Data 4 includes statistical analysis of patients with BAP1-...,