Uveal Melanoma — TCGA

Overview

The Cancer Genome Atlas (TCGA) uveal melanoma (UM) cohort comprising 80 samples released on 2015-11-14. This dataset serves as an external validation resource for UM driver discovery, particularly for the confirmation of novel recurrent mutations identified in other cohorts. Reference genome hg19.

Composition

  • 80 uveal melanoma samples (released 2015-11-14 during peer review of the QIMR 2016 study).
  • Cancer type: UM (uveal melanoma).

Assays / panels (linked)

Papers using this cohort

  • PMID:26683228 — Johansson et al. 2016, “Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4,” Oncotarget (external validation use).

Notable findings derived from this cohort

  • 2/80 TCGA UM samples carried codon p.D630 PLCB4 mutations, corroborating the hotspot identified in um_qimr_2016: TCGA-VD-A8KD with adjacent c.G1888T + c.A1889T variants (p.D630Y + p.D630V, or p.D630F in cis) and TCGA-YZ-A985 with c.G1888A (p.D630N) PMID:26683228.

Sources

This page was processed by crosslinker on 2026-05-14.