Table 1. Genetic and clinical characteristics of the studied groups.
| Lynch syndrome families (n = 96) | ||||
| Controls (n = 234) | ||||
| MMR gene mutation carriers (244) | Non-carriers | Unrelated controls | ||
| *Cancer | Cancer-free | |||
| N | 144 | 100 | 144 | 90 |
| MMR gene mutated: n (%) | MLH1: 87 (60.4) | MLH1: 62 (62.0) | - | - |
| MSH2: 42 (29.2) | MSH2: 29 (29.0) | - | - | |
| MSH6: 9 (6.3) | MSH6: 9 (9.0) | - | - | |
| PMS2: 5 (3.5) | PMS2: 0 | - | - | |
| EpCAM: 1 (0.7) | EpCAM: 0 | - | - | |
| Median age at blood draw (± SD) | 51.5 (±13.4) | 35.0 (±11.5) | 42.0 (±14.9) | 41.5 (±15.1) |
| Sex: n (%) | M: 74 (51.4) | M: 40 (40.0) | M: 64 (44.4) | M: 28 (31.1) |
| F: 70 (48.6) | F: 60 (60.0) | F: 80 (55.6) | F: 62 (68.9) | |
| Median age at cancer diagnosis (± SD) | 43.0 (±12.9) | |||
N: number of subjects; SD: standard deviation; M: male; F: female.
*
Cancer: Individual affected with a LS-associated cancer: CRC and/or cancer of the endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, upper uro-epithelial tract or brain.