Table 1 MMR gene distribution in the entire Lynch syndrome cohort and the subgroup in surveillance
Entire Lynch syndrome cohort | Lynch syndrome cohort in surveillance | |||
|---|---|---|---|---|
Individuals | Extra-colonic cancers | Individuals | Extra-colonic cancers | |
n (%) | n (%) | n (%) | n (%) | |
Cohort size | 1624 | 560 | 1336 | 222 |
Unaffected | 862 (53.1) | — | 1028 (76.9) | — |
MMR gene mutation | ||||
MLH1 | 443 (27.3) | 128 (22.9) | 370 (27.7) | 60 (27.0) |
MSH2/EPCAM | 701 (43.2) | 289 (51.6) | 616 (46.1) | 129 (58.1) |
MSH6 | 419 (25.8) | 140 (25.0) | 317 (23.7) | 33 (14.9) |
PMS2 | 61 (3.8) | 3 (0.5) | 33 (2.5) | 0 (0) |
Sex, men | 754 (46.4) | 178 (31.8) | 631 (47.2) | 91 (41.0) |
