Figure 7

The mutation spectrum of MMR-related genes and driver genes in patients with POLE and POLD1 variants. The mutation spectrum of cancers with 27 POLE damaging variants is shown in (A) and compared with that of the POLE/POLD1 WT group (78 cases, randomly selected). The mutation spectrum of cancers with 7 POLE exonuclease region damaging variants is shown in (B) and compared with that of the POLE/POLD1 WT group (78 cases, randomly selected). The mutation spectrum of cancers with 14 POLD1 damaging variants is shown in (C) and compared with that of the POLE/POLD1 WT group (78 cases, randomly selected). Names of the MMR-related and driver genes are list to the left of the spectrum panels. Histograms above the spectrum panels show the mutation rate for each case, ranked from highest to lowest in each group. Grey bars under the spectrum panels indicates the different groups, with light grey bars representing the POLE or POLD1 damaging variant groups, and the dark grey bars representing the POLE/POLD1 WT group. Red bars on the right represent the mutation rate for each listed gene in patients with POLE or POLD1 damaging variants, and the darkness stands for the level of mutation rate. Blue bars on the right represent gene mutation rate for POLE/POLD1 WT group, with darkness standing for the level of mutation rate. Purple bars on the right represent the ratio of mutation rate between POLD/POLD1 damaging variant group and the WT group, ranked from highest to lowest.