Table 2

Sensitivity and specificity of clinical criteria for identifying kindreds with pathogenic hMSH2 or MLH1 mutations

No of families with mutations in MSH2 or MLH1 % Families fulfilling criteria (n=70) % Families with mutations missed by criteria (n=18) Sensitivity of criteria (95% CI) Specificity of criteria (95% CI)
Amsterdam1140 (28)39 (7)61% (43%, 79%)67% (50%, 85%)
Modified Amsterdam1356 (39)28 (5)72% (58%, 86%)50% (34%, 66%)
Amsterdam II1449 (34)22 (4)78% (64%, 92%)61% (45%, 78%)
Bethesda1780 (56)6 (1)94% (88%, 100%)25% (14%, 36%)
Bethesda (1–3)1763 (44)6 (1)94% (88%, 100%)49% (34%, 64%)