Strategy | Number of patients fulfilling each strategy (n = 1222) (%) | Number of patients with mutations in MLH1 or MSH2 (n = 8) (%) | Number of patients with mutations missed by each strategy (n = 8) (%) |
Amsterdam II | 22 (2) | 4 (50) | 4 (50) |
Any RBG | 287 (23) | 8 (100) | 0 |
Universal MMR deficiency testing* | 91 (7) | 8 (100) | 0 |
PREMM ⩾5% | 396 (32) | 8 (100) | 0 |
PREMM ⩾10% | 130 (11) | 6 (75) | 2 (25) |
PREMM ⩾20% | 32 (3) | 5 (62) | 3 (37) |
PREMM ⩾40% | 9 (<1) | 2 (25) | 6 (75) |
Barnetson ⩾0.5% | 349 (29) | 7 (87) | 1 (0.1) |
Barnetson ⩾5% | 77 (6) | 6 (75) | 2 (25) |
Barnetson ⩾20% | 29 (2) | 4 (50) | 4 (50) |
Barnetson ⩾45% | 14 (1) | 3 (37) | 5 (62) |
RBG, revised Bethesda guidelines; MMR, mismatch repair.
*Considered as high microsatellite instability (MSI) or loss of protein expression by immunohistochemistry (IHC).