Document Type

Journal Article

Publication Title

Nature Communications

Publisher

Springer Nature

School

School of Medical and Health Sciences

RAS ID

31587

Funders

Funding information available at https://doi.org/10.1007/s00429-020-02071-1

Grant Number

NHMRC Number : 1093017

Grant Link

http://purl.org/au-research/grants/nhmrc/1093017

Comments

Johansson, P. A., Brooks, K., Newell, F., Palmer, J. M., Wilmott, J. S., Pritchard, A. L., ... & Koufariotis, L. T. (2020). Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours. Nature communications, 11(1), Article number: 2408. https://doi.org/10.1038/s41467-020-16276-8

Abstract

Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

DOI

10.1038/s41467-020-16276-8

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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