Fig. 3: Tumor mutational load (TML) and mutational signatures in CMMRD tumors differ depending on the tumor type. | Nature Communications

Fig. 3: Tumor mutational load (TML) and mutational signatures in CMMRD tumors differ depending on the tumor type.

From: Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

Fig. 3: Tumor mutational load (TML) and mutational signatures in CMMRD tumors differ depending on the tumor type.

The single base substitution (SBS) TML and relative contribution of SBS14 and ID1 are significantly higher in malignant brain tumors (n = 14) than in gastrointestinal tumors (n = 15) and hematological malignancies (n = 12). Conversely, compared to malignant brain tumors, the relative contribution of ID2 is significantly higher in gastrointestinal tumors and hematological malignancies, and the relative contribution of SBS26 is significantly higher in hematological malignancies. The indel TML and relative contribution of SBS15 is significantly higher in malignant brain tumors and gastrointestinal tumors than in hematological malignancies. 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 Kruskal-Wallis test, followed by a Dunn’s test with Bonferroni adjustment. ns = not significant, *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001. Means and p-values are reported in Table S6. Source data are provided as a Source Data file.

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