Table 2. Sensitivity and specificity of clinical criteria for detecting patients with pathogenic mutations in four MMR genes (MLH1, MSH2, MSH6 and PMS2).
Clinical criteria | Families fulfilling criteria | Families positive for MMR mutations | Positive families missed by criteria | Sensitivity (95%CI) | Specificity (95%CI) |
---|---|---|---|---|---|
Amsterdam I and II | 49 | 31 | 15 | 67% (52%-80%) | 74% (62%-84%) |
Bethesda | 112 | 45 | 1 | 98% (88%-100%) | 4% (1%-12%) |
CI: Confidence interval