Table 4 Performance characteristics for the identification of MLH1/MSH2 mutation carriers according to different strategies
StrategySensitivity (95% CI)Specificity (95% CI)PPV (95% CI)With tumour MMR deficiency testing*
Sensitivity (95% CI)Specificity (95% CI)PPV (95% CI)
Fulfilment of the revised Bethesda guidelines100 (71 to 100)77 (74 to 79)3 (1 to 5)100 (99 to 100)98 (97 to 98)22 (11 to 38)
Fulfilment of the Amsterdam I/II criteria50 (22 to 78)98 (97 to 99)18 (7 to 39)50 (22 to 78)99 (99 to 100)36 (15 to 65)
Universal MMR testing100 (71 to 100)94 (92 to 95)10 (5 to 18)
PREMM⩾5%100 (71 to 100)68 (65 to 71)2 (1 to 4)100 (71 to 100)97 (96 to 98)21 (10 to 36)
PREMM⩾10%75 (40 to 94)90 (88 to 91)5 (2 to 10)75 (40 to 94)99 (98 to 99)29 (13 to 50)
PREMM⩾20%62 (30 to 86)98 (97 to 98)16 (6 to 32)62 (30 to 86)99 (98 to 100)36 (16 to 61)
PREMM⩾40%25 (6 to 60)99 (99 to 100)22 (5 to 56)25 (6 to 60)99 (99 to 100)29 (8 to 65)
Barnetson ⩾0.5%87 (51 to 99)72 (69 to 74)2 (1 to 4)87 (51 to 99)98 (97 to 99)21 (10 to 38)
Barnetson ⩾5%75 (40 to 93)94 (93 to 95)8 (3 to 16)75 (40 to 93)99 (99 to 100)35 (17 to 59)
Barnetson ⩾20%50 (22 to 78)98 (97 to 99)14 (5 to 31)50 (22 to 78)100 (99 to 100)44 (19 to 73)
Barnetson ⩾45%37 (13 to 70)99 (98 to 100)21 (7 to 48)37 (13 to 70)100 (99 to 100)37 (13 to 70)
  • CI, confidence interval; MMR, mismatch repair; NPV, negative predictive value; PPV, positive predictive value.

  • *Deficiency defined as high microsatellite instability (MSI) or loss of expression of MLH1 or MSH2.