Table 4.

Diagnostic and False-Positive Yields of Selected Strategies for the Identification of Patients With Lynch Syndrome^a

Tumor MMR Testing	Germline MMR Gene Mutation
	Diagnostic Yieldb		P Valuec	Incremental Diagnostic Yield, %d	False–Positive Yielde
	No./Total No.	% (95% CI)			No./Total No.	% (95% CI)
CRC patients fulfilling a   condition     Multivariate modelf	67/3671	1.8 (1.3–2.2)	<.001		61/3671	1.7 (1.2–2.1)
Jerusalem recommendationsg	70/3671	1.9 (1.4–2.3)	<.001	0.08	119/3671	3.2 (2.6–3.8)
≥1 Criterion of revised       Bethesda guidelines	72/3671	2.0 (1.5–2.4)	<.001	0.05	90/3671	2.5 (2.0–2.9)
Jerusalem recommendationsg       or ≥1 criterion of revised       Bethesda guidelines	78/3671	2.1 (1.6–2.6)	<.001	0.16	161/3671	4.4 (3.7–5.0)
Any CRC patient (universal strategy)	82/3671	2.2 (1.7–2.7)	[Reference]	0.11	253/3671	6.9 (6.0–7.7)

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

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

^bDiagnostic yield refers to probands requiring germline MMR gene analysis in whom a mutation was found.

^cMatthews correlation coefficient comparison of diagnostic yield with respect to the universal strategy.

^dCompared with the next least intensive strategy.

^eFalse-positive yield refers to probands requiring germline MMR gene analysis in whom no mutation was found.

^fDefined 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.

^gAge at CRC diagnosis ≤70 years.