Table 2 Overall distribution of patients fulfilling each strategy
StrategyNumber 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 II22 (2)4 (50)4 (50)
Any RBG287 (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).