Table 3.

Performance Characteristics of Selected Strategies for the Identification of Patients With Lynch Syndrome^a

Tumor MMR Testing	No.(%)		Germline MMR Gene Mutation
	Probands Requiring Tumor MMR Testingb	Probands Requiring Germline MMR Gene Analysisc	Sensitivity		Specificity		Positive Predictive Value		Negative Predictive Value
			No./ Total No	% (95% CI)	No./ Total No.	% (95% CI)	No./ Total No.	% (95% CI)	No./ Total No.	% (95% CI)
CRC patients fulfilling a   condition     Multivariate modeld	1158 (31.5)	128 (3.5)	67/82	81.7 (72.7–90.6)	3528/3589	98.3 (97.8–98.7)	67/128	52.3 (43.3–61.3)	3528/3543	99.6 (99.3–99.8)
Jerusalem       recommendationse	2125 (57.8)	189 (5.1)	70/82	85.4 (77.1–93.6)	3470/3589	96.7 (96.0–97.2)	70/189	37.0 (29.9–44.2)	3470/3482	99.7 (99.4–99.8)
≥1 Criterion of revised       Bethesda       guidelines	992 (27.0)	162 (4.4)	72/82	87.8 (78.9–93.2)	3499/3589	97.5 (96.9–98.0)	72/162	44.4 (36.4–52.4)	3499/3509	99.7 (99.5–99.9)
Jerusalem       recommendationse       or ≥1 criterion of       revised Bethesda       guidelines	2394 (65.2)	239 (6.5)	78/82	95.1 (89.8–99.0)	3428/3589	95.5 (94.7–96.1)	78/239	32.6 (26.4–38.7)	3428/3432	99.9 (99.7–100)
Any CRC patient (universal strategy)	3671 (100)	335 (9.1)	82/82	100 (99.3–100)	3336/3589	93.0 (92.0–93.7)	82/335	24.5 (19.7–29.2)	3336/3336	100 (99.9–100)

Abbreviations: CRC, colorectal cancer; MMR, mismatch repair.

^aThis analysis was limited to population-based cohorts (n=3671 probands).

^bProbands requiring tumor MMR testing in each strategy, with respect to those in whom it could be assessed.

^cProbands requiring germline MMR gene analysis because of the demonstration of tumor MMR deficiency in each strategy, with respect to those in whom it could be assessed.

^dDefined as fulfillment of ≥1 of the following characteristics: CRC diagnosed at ≤60 years, ≥1 first-degree relative with CRC diagnosed at ≤50 years, or personal history of metachronous Lynch syndrome-related tumors diagnosed at ≤50 years.

^eAge at CRC diagnosis ≤70 years.