Table 4.
EC cases in the study. MMRp = mismatch repair-proficient, MMRd = mismatch repair-deficient, M = median, IQR = inter-quartile range, ND = Not Disclosed owing to participant confidentiality policies within the 100kGP. PMS2-mutant ECs were excluded from dMutSα/dMutLα classification. NA = Not Applicable
| Group | N | Lynch syndrome | Age (Μ, IQR) |
TMB (Μ, IQR) |
CpG > TpG Burden (Μ, IQR) |
Non-CpG C > T Burden (Μ, IQR) |
|---|---|---|---|---|---|---|
| MMRp | 360 | 0 (0%) | 68 (60–74) | 9115 (7304–11,416) | 1188 (925–1483) | 1872 (1531–2329) |
| All MMRd | 157 | 5 (3.18%) | 68 (61–76) | 61,840 (47,910–85,227) | 6774 (4803–10,197) | 17,171 (13,114–21,787) |
| dMutSα (MSH2) | 5 | 1 (20%) | 55 (52–57) | 105,702 (98,503–113,452) | 24,240 (18,434–25,304) | 27,221 (22,965–29,992) |
| dMutSα (MSH6) | 4 | 3 (75%) | ND | 81,556 (74,725–88,830) | 21,880 (21,375–22,179) | 23,474 (20,349–25,633) |
| dMutLα (MLH1 mutation) | 3 | 1 (33.3%) | ND | 95,035 (79,204–96,890) | 10,146 (10,025–11,585) | 22,614 (20,047–23,113) |
| dMutLα (presumed MLH1 methylation) | 100 | 0 (0%) | 69 (62–76) | 58,331 (46,995–79,656) | 6108 (4677–8323) | 16,651 (13,398–20,873) |
| PMS2-mutant | 0 | 0 (0%) | NA | NA | NA | NA |