Table 1.
CRC cases in the study. MMRp = mismatch repair-proficient, MMRd = mismatch repair-deficient, Μ = median, IQR = inter-quartile range, ND = Not Disclosed owing to participant confidentiality policies within the 100kGP. PMS2-mutant CRCs were excluded from dMutSα/dMutLα classification. NA = Not Applicable
| Group | N | Lynch syndrome | Female sex | Age (Μ, IQR) |
TMB (Μ, IQR) |
CpG > TpG Burden (Μ, IQR) |
Non-CpG C > T Burden (Μ, IQR) |
|---|---|---|---|---|---|---|---|
| MMRp | 1,441 | 0 (0%) | 529 (36.7%) | 69 (61–76) | 17,483 (14,112–22,841) | 2558 (2079–3249) | 2782 (2316–3445) |
| All MMRd | 310 | 23 (7.4%) | 188 (60.6%) | 72 (65–79) | 139,682 (110,254–177,942) | 18,558 (14,393–25,950) | 31,572 (25,217–40,621) |
| dMutSα (MSH2) | 8 | 4 (50%) | ND | 46 (42–56) | 151,404 (117,164–175,894) | 27,998 (27,108–33,392) | 29,593 (27,520–39,278) |
| dMutSα (MSH6) | 12 | 9 (75%) | ND | 65 (56–70) | 162,972 (118,526–213,208) | 39,606 (31,657–55,576) | 38,658 (32,151–51,461) |
| dMutLα (MLH1 mutation) | 34 | 10 (29.4%) | 12 (35.3%) | 64 (48–71) | 118,590 (95,457–149,057) | 15,212 (13,169–18,954) | 29,443 (24,118–33,444) |
| dMutLα (presumed MLH1 methylation) | 130 | 0 (0%) | 91 (70%) | 73 (68–79) | 132,605 (106,417–162,697) | 17,184 (13,821–23,003) | 29,463 (23,949–38,663) |
| PMS2-mutant | 0 | 0 (0%) | 0 (0%) | NA | NA | NA | NA |