Table 1.
Patients with familial colorectal or Lynch-associated cancers included in the study
| Patients with CRC (fulfilling Amsterdam II and/or Bethesda criteria) | Patients with family history of CRC and personal history of colorectal polyposis or of cancer in the Lynch syndrome tumor spectrum | Patients with Lynch syndrome (with identified MMR mutation or variant of unknown significance) | |
| Total number of patients | 120 | 581 | 132 |
| MSI | 50 | 13 | 132 |
| MSS | 37 | 16 | 0 |
| Unknown | 33 | 29 | 0 |
| Revised Bethesda criteria | 97 | 17 | 132 |
| MSI | 38 | 4 | 132 |
| MSS | 31 | 3 | 0 |
| Unknown | 28 | 10 | 0 |
| Amsterdam II criteria | 41 | 15 | ND |
| MSI | 14 | 4 | |
| MSS | 14 | 3 | |
| Unknown | 13 | 8 | |
| First-degree relatives with CRC | 23 | 13 | ND |
| MSI | 12 | 3 | |
| MSS | 6 | 3 | |
| Unknown | 5 | 7 | |
| Polyps (> 10 polyps) | 0 | 0 | 0 |
| Polyps (≤ 10 polyps) at age < 50 +/- first-degree relatives with polyps, MUTYH-negative | 0 | 41 | ND |
| MSI | 9 | ||
| MSS | 13 | ||
| Unknown | 19 |
1
Including 35 patients with personal history of colorectal polyposis and 23 patients with personal history of cancers included in the Lynch syndrome tumor spectrum (peritoneal carcinomatosis, oligoastrocytoma, endometrial carcinoma, gastric adenocarcinoma, or duodenal adenocarcinoma). CRC: Colorectal cancer; MSI: Microsatellite instability; MSS: Microsatellite stable; ND: Not data; MMR: Mismatch repair.