Table 1.
Patient characteristics
| FCCX | LLSa | LS | Total | |||
|---|---|---|---|---|---|---|
| MLH1 | MSH2 | MSH6 | ||||
| n = 116 | n = 594 | n = 447 | n = 549 | n = 124 | n = 1830 | |
| [Index patients] | [79] | [451] | [279] | [324] | [67] | [1200] |
| Individuals at risk, number [index patients] | ||||||
| Any | 40 [9] | 120 [11] | 116 [6] | 158 [12] | 48 [5] | 482 [43] |
| Colorectal | 42 [10] | 140 [25] | 133 [14] | 206 [36] | 57 [6] | 578 [91] |
| Stomach | 115 [78] | 584 [442] | 439 [271] | 539 [316] | 124 [67] | 1801 [1174] |
| Small bowel | 116 [79] | 586 [443] | 429 [263] | 536 [315] | 124 [67] | 1791 [1167] |
| Urothelial | 116 [79] | 585 [443] | 445 [277] | 524 [304] | 122 [67] | 1792 [1170] |
| Female breast | 58 [40] | 307 [224] | 214 [115] | 256 [138] | 60 [28] | 895 [545] |
| Ovarian | 56 [38] | 270 [190] | 187 [98] | 202 [105] | 48 [22] | 763 [453] |
| Endometrial | 53 [36] | 254 [186] | 152 [76] | 163 [83] | 45 [19] | 667 [400] |
| Age at start of prospective observation, median (interquartile range) | ||||||
| Any | 40 (35–50) | 39 (30–46) | 35 (29–43) | 36 (30–43) | 40 (34–48) | 38 (30–45) |
| Colorectal | 40 (35–51) | 41 (31–48) | 37 (30–45) | 39 (31–48) | 42 (36–51) | 39 (31–48) |
| Stomach | 49 (41–55) | 44 (38–51) | 44 (35–54) | 44 (36–52) | 44 (37–57) | 45 (37–53) |
| Small bowel | 49 (41–55) | 44 (38–52) | 44 (35–53) | 44 (36–52) | 44 (37–57) | 45 (37–53) |
| Urothelial | 49 (41–55) | 44 (38–51) | 44 (35–54) | 44 (36–52) | 44 (37–56) | 44 (37–53) |
| Female breast | 48 (41–55) | 44 (38–52) | 44 (35–54) | 44 (36–54) | 44 (38–55) | 44 (37–53) |
| Ovarian | 48 (41–53) | 44 (38–50) | 41 (34–52) | 42 (34–51) | 40 (37–49) | 43 (36–51) |
| Endometrial | 49 (41–55) | 43 (37–49) | 38 (32–47) | 40 (33–46) | 40 (37–47) | 41 (35–49) |
| Median follow-up time, person-years | ||||||
| Any | 6.8 | 6.9 | 6.5 | 6.4 | 6.5 | 6.5 |
| Colorectal | 7.1 | 6.3 | 6.5 | 7.0 | 7.1 | 6.8 |
| Stomach | 7.1 | 6.5 | 7.3 | 7.8 | 6.7 | 7.1 |
| Small bowel | 7.1 | 6.4 | 7.2 | 7.7 | 6.7 | 7.0 |
| Urothelial | 7.1 | 6.4 | 7.2 | 7.5 | 6.7 | 6.9 |
| Female breast | 7.2 | 6.5 | 6.7 | 8.1 | 7.1 | 7.1 |
| Ovarian | 7.3 | 6.3 | 6.5 | 7.0 | 7.3 | 6.8 |
| Endometrial | 7.2 | 5.9 | 6.0 | 6.0 | 7.1 | 6.1 |
| Cumulative follow-up time, person-years | ||||||
| Any | 308 | 838 | 819 | 1105 | 326 | 3395 |
| Colorectal | 329 | 964 | 938 | 1509 | 417 | 4157 |
| Stomach | 854 | 4019 | 3300 | 4222 | 843 | 13239 |
| Small bowel | 858 | 4011 | 3212 | 4164 | 843 | 13088 |
| Urothelial | 858 | 4003 | 3314 | 4006 | 829 | 13010 |
| Female breast | 420 | 2093 | 1539 | 1963 | 451 | 6467 |
| Ovarian | 417 | 1805 | 1292 | 1397 | 368 | 5278 |
| Endometrial | 376 | 1581 | 994 | 1019 | 315 | 4285 |
| Individuals with incident cancer, number | ||||||
| Any | 2 | 8 | 13 | 27 | 3 | 53 |
| Colorectal | 0 | 6 | 7 | 19 | 2 | 34 |
| Stomach | 0 | 4 | 4 | 5 | 0 | 13 |
| Small bowel | 0 | 1 | 9 | 14 | 0 | 24 |
| Urothelial | 1 | 4 | 9 | 19 | 0 | 33 |
| Female breast | 1 | 3 | 3 | 6 | 4 | 17 |
| Ovarian | 0 | 0 | 0 | 5 | 0 | 5 |
| Endometrial | 0 | 5 | 9 | 13 | 1 | 28 |
an = 320 with deficient MMR protein expression in MLH1, n = 127 in MSH2, n = 26 in MSH6. IHC was not performed in n = 121 individuals