Fig. 2

Mutational signature analysis of primary angiosarcoma (N = 48 samples, 12,499 single nucleotide variants analyzed). The figure shows that face and scalp angiosarcomas often have high or intermediate mutation burden and UV light signature whereas other angiosarcomas have mostly lower mutation burden and aging signatures. Each etiology was studied individually. The signature probability was calculated using the entire set of variants in each sample. The probability (see green spectrum) is given as a number between 0 and 1: 0 corresponds to the lowest probability that the causative event occurred in the tumor and 1 corresponds to the highest probability that the causative event occurred in the tumor. Aging (as demonstrated by spontaneous demethylation of CpG islands), ultra-violet (UV) light exposure, and defective mismatch repair (MMR) are the top-3 etiologies proposed. Abbreviations: APOBEC, apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like; Mb, megabase; MMR, mismatch repair; MSI, microsatellite instability; POLE, polymerase epsilon; POLH, polymerase eta; UV, ultra-violet