Table 5.
Proportion of patients identified as gene mutation carriers by MMRPro and PREMM1,2,6 at different decision thresholds
| Model and risk score category | High-risk patients* No. (%) |
Identified gene mutation carriers (true positive) No. (%) |
Predicted but not actual carriers (false positive) No. (%) |
Missed gene mutation carriers (false negative) No. (%) |
|---|---|---|---|---|
| Clinic-based cohorts | ||||
| PREMM1,2,6, % | ||||
| >0 | 2294/2294 (100) | 536/536 (100) | 1758/1758 (100) | 0/536 (0) |
| >5 | 1754//2294 (76) | 516/536 (96) | 1238/1758 (70) | 20/536 (4) |
| >10 | 1156/2294 (50) | 467/536 (87) | 689/1758 (39) | 69/536 (13) |
| >20 | 744/2294 (32) | 403/536 (75) | 341/1758 (19) | 133/536 (25) |
| MMRPro, % | ||||
| >0 | 2304/2304 (100) | 539/539 (100) | 1765/1765 (100) | 0/539 (0) |
| >5 | 1595/2304 (69) | 510/539 (95) | 1085/1765 (61) | 29/539 (5) |
| >10 | 1338/2304 (58) | 482/539 (89) | 856/1765 (48) | 57/539 (11) |
| >20 | 990/2304 (43) | 422/539 (78) | 568//1765 (32) | 117/539 (22) |
| Population-based cohort | ||||
| PREMM1,2,6, % | ||||
| >0 | 3451/3451 (100) | 150/150 (100) | 3301/3301 (100) | 0/150 (0) |
| >5 | 887/3451 (26) | 130/150 (87) | 757/3301 (23) | 20/150 (13) |
| >10 | 375/3451 (11) | 102/150 (68) | 273/3301 (8) | 48/150 (32) |
| >20 | 179/3451 (5) | 81/150 (54) | 98/3301 (3) | 69/150 (46) |
| MMRPro, % | ||||
| >0 | 2314/2314 (100) | 140/140 (100) | 2174/2174 (100) | 0/140 (0) |
| >5 | 906/2314 (39) | 119/140 (79) | 787/2174 (36) | 21/140 (15) |
| >10 | 730/2314 (32) | 111/140 (74) | 619/2174 (28) | 29/140 (21) |
| >20 | 532/2314 (23) | 102/140 (68) | 430/2174 (20) | 38/140 (27) |
* High-risk = number of patients within each designated risk score category.