Table 4 Sensitivity and specificity of clinical criteria for identifying kindreds with pathogenic MSH2 or MLH1 mutations
Clinical criteria | Number of families fulfilling criteria | No of families with MSH2 or MLH1 mutations | Families with mutations missed by criteria | Sensitivity (95% confidence intervals) | Specificity (95% confidence Intervals) | Positive predictive value (95% confidence intervals) |
|---|---|---|---|---|---|---|
Amsterdam | 53 | 30 | 19 | 61% (46-74%) | 74% (65-82%) | 57% (43-69%) |
Modified Amsterdam | 65 | 37 | 12 | 76% (62-87%) | 69% (58-78%) | 57% (45-68%) |
Amsterdam II | 67 | 39 | 10 | 80% (66-90%) | 69% (58-78%) | 58% (46-69%) |
Bethesda 1-3 | 99 | 45 | 4 | 92% (81-97%) | 39% (30-50%) | 46% (36-55%) |
Bethesda all | 136 | 49 | 0 | 100% (93-100%) | 2% (0-7%) | 36% (28-44%) |