Fig. 1: Mutational landscape of 103 UM tumours.
From: Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours
a Tumour mutation burden (substitutions and indels) in 103 uveal melanomas. b Burden of structural variation in each tumour displayed as numbr of events. Variants are coloured according to their event category. One outlier was observed with >200 events, mostly mid-sized (<100 kb) deletions. c Spectrum of single base substitution (SBS) signatures shown as percentage. Most samples were dominated by signature 5, which has been observed in most cancers. Signatures SBS7a and SBS7b, only seen in iris melanomas here, are commonly observed in cutaneous melanoma and associated with exposure to ultraviolet radiation (UVR). SBS1 was predominantly observed in melanomas with loss of MBD4 and is associated with deamination of 5-methylcytosine. Spectrum of double base substitutions shown as number of substitutions in each tumour. DBS1 is characterised by CC>TT transition and associated with exposure to UVR.
