Table 2.
Burdens and activities of single-base substitution (SBS) mutations of different types, including SBS signatures, in dMutLα and dMutSα CRCs. Median (IQR) is shown. P from a Wilcoxon test. Other Signatures include SBS7c, SBS14, SBS17a, SBS17b, SBS18, SBS20, SBS36, SBS41, SBS93, and mutations not assigned to any pre-existing COSMIC mutation signature
| dMutLα (n = 164) | dMutSα (n = 20) | P | |
|---|---|---|---|
| SBS Burden | 130,005 (105,490–157,857) | 159,321 (117,164–191,583) | 0.023 |
| Age | 72 (66–79) | 57 (48–67) | 1.5 × 10−4 |
| C > A Mutation Burden | 14,973 (11,704–18,139) | 15,679 (11,613–21,896) | 0.54 |
| C > G Mutation Burden | 3657 (3099–4531) | 3415 (2575–4329) | 0.084 |
| CpG > TpG Mutation Burden | 16,952 (13,722–22,623) | 33,209 (27,698–45,746) | 1.1 × 10−8 |
| Non-CpG C > T Mutation Burden | 29,443 (23,950–38,073) | 35,030 (29,016–45,830) | 0.029 |
| T > A Mutation Burden | 13,638 (11,274–17,724) | 15,084 (11.639–20,264) | 0.43 |
| T > C Mutation Burden | 36,001 (27,761–48,939) | 35,130 (25,750–49,379) | 0.94 |
| T > G Mutation Burden | 11,597 (8637–16,268) | 9543 (7470–14,507) | 0.22 |
| C > A Activity (%) | 11.4 (10.1–12.6) | 9.5 (8–10.8) | 0.0012 |
| C > G Activity (%) | 2.9 (2.5–3.2) | 2.2 (1.7–2.3) | 9.8 × 10−9 |
| CpG > TpG Activity (%) | 13.4 (11.5–15.3) | 23.9 (18.2–27.9) | 1.8 × 10−7 |
| Non-CpG C > T Activity (%) | 23.2 (20.8–25.3) | 23.4 (19.6–26.3) | 0.81 |
| T > A Activity (%) | 10.7 (10.2–11.6) | 9.1 (8.3–10.3) | 4.7 × 10−5 |
| T > C Activity (%) | 28.1 (25.7–31.2) | 22.5 (20.9–25.6) | 3.9 × 10−5 |
| T > G Activity (%) | 9.2 (7.8–10.2) | 6 (5–7.3) | 1.4 × 10−6 |
| SBS1 Burden | 8754 (4167–11,671) | 25,828 (18,035–33,730) | 4.7 × 10−10 |
| SBS1 Activity (%) | 6.4 (3.6–9.2) | 18.4 (11.3–21.9) | 1.6 × 10−7 |
| SBS5 Activity (%) | 16.4 (10.9–21.6) | 14.5 (6.2–18.7) | 0.21 |
| SBS15 Activity (%) | 0 (0–15.4) | 5.7 (0–16.5) | 0.87 |
| SBS21 Activity (%) | 0 (0–0) | 0 (0–0) | 0.35 |
| SBS26 Activity (%) | 9.3 (0–15.9) | 0 (0–0) | 0.011 |
| SBS44 Activity (%) | 21.5 (0–29) | 22.5 (12.7–26.7) | 0.50 |
| SBS57 Activity (%) | 0 (0–23.4) | 0 (0–17.7) | 0.95 |
| Other Signatures'Activity (%) | 32.7 (24.4–40.6) | 23.4 (20–30.6) | 0.0085 |