Fig. 4: Tumor mutational load (TML) and mutational signature contributions differ between CMMRD tumors with different affected MMR genes.

The indel TML is significantly lower and the relative contribution of signature ID2 is significantly higher in MSH6-deficient tumors (n = 9). PMS2-deficient tumors (n = 30) have significantly higher contributions of ID1 and, although not significant, higher contributions of SBS26. The center line of the box displays the median, the box limits represent the first and third quartiles and the whiskers indicate the minimum and maximum, or, in case of outliers, 1.5 times the interquartile range. P-values were calculated with a two-sided Mann-Whitney U test. ns = not significant, *p < 0.05, **p < 0.01, ****p < 0.0001. Means and p-values are reported in Table S8. Source data are provided as a Source Data file.