Table 1. Characteristics of the study sample.
| FCCTX-like cases | Lynch-like cases | Cases, n (%) | Controls, n (%) | Total | |||||
|---|---|---|---|---|---|---|---|---|---|
| Tier | Tier 1 | Tier 3 | Tier 4 | Tier 5 | Tier 2 | Tier 6 | |||
| Tier criteria | AC-I | AC-I (No age)* |
AC-II | CRC<60 ≥1 FDR/SDR |
AC-I/II | CRC ≥1 FDR/SDR | |||
| Tier MSI status | MSS | MSS | MSS | MSS | MSI-H | MSI-H | |||
| Total | 139 (13.3%) | 202 (19.3%) | 36 (3.4%) | 501 (47.9%) | 64 (6.1%) | 104 (10%) | 1046 | 1006 | 2052 |
| Sample origin | |||||||||
| Fred Hutchinson Cancer Research Center | 6 | 22 | 5 | 67 | 6 | 15 | 121 (12%) | 504 (50%) | 625 |
| University of Hawaii | 5 | 13 | - | 36 | - | 6 | 60 (5%) | 110 (11%) | 170 |
| Cancer Care Ontario | 26 | 84 | 10 | 96 | 13 | 27 | 256 (25%) | 26 (3%) | 282 |
| USC Consortium | 15 | 32 | 10 | 52 | 25 | 17 | 151 (14%) | 0 | 151 |
| University of Melbourne | 58 | 34 | 5 | 155 | 16 | 20 | 288 (28%) | 256 (25%) | 544 |
| Mayo Clinic | 29 | 17 | 6 | 95 | 4 | 19 | 170 (16%) | 110 (11%) | 280 |
| Age (mean (range)) | 55 (26–87) | 63 (23-92) | 58 (39-76) | 53 (29-94) | 55 (20-87) | 58 (29-84) | 56 (20-94) | 61 (43-84) | |
| Sex | |||||||||
| Male | 61 | 105 | 15 | 251 | 31 | 49 | 512 (49%) | 395 (39%) | 907 |
| Female | 78 | 97 | 21 | 249 | 33 | 55 | 533 (51%) | 611 (61%) | 1144 |
| Unknown | 0 | 0 | 0 | 1 | 0 | 0 | 1 (0%) | 0 | 1 |
| Race | |||||||||
| White | 127 | 180 | 36 | 436 | 59 | 96 | 934 (89%) | 863 (85%) | 1797 |
| Black | 1 | 1 | 0 | 9 | 0 | 0 | 11 (1%) | 20 (2%) | 31 |
| Asian | 6 | 17 | 0 | 45 | 2 | 7 | 77 (7%) | 97 (10%) | 174 |
| American Indian | 1 | 1 | 0 | 2 | 0 | 0 | 4 (1%) | 2 (1%) | 6 |
| Other or unknown | 4 | 3 | 0 | 9 | 3 | 1 | 20 (2%) | 24 (2%) | 44 |
| CRC site | |||||||||
| Large intestine | 102 | 140 | 23 | 374 | 59 | 98 | 796 (76%) | - | 796 |
| Rectum | 37 | 57 | 13 | 123 | 5 | 6 | 241 (23%) | - | 241 |
| Appendix | 0 | 4 | 0 | 4 | 0 | 0 | 8 (1%) | - | 8 |
| MSI | |||||||||
| MSS | 112 | 174 | 33 | 417 | - | - | 736 (70%) | - | 736 |
| MSI-Low | 27 | 28 | 3 | 84 | - | - | 142 (14%) | - | 142 |
| MSI-High | - | - | - | - | 64 | 104 | 168 (16%) | - | 168 |
AC – Amsterdam criteria, MSI – microsatellite instability, MSS – microsatellite stable, MSI-H – highly microsatellite unstable, FDR – first degree relative, SDR – second degree relative.
*AC-I (no age) describes Tier 3 cases that fulfill all AC-I criteria except “At least 1 of the cancers diagnosed before age 50”.