Table 5.

Comparison of Prediction Models for Identifying Mismatch Repair Gene Mutation Carriers

Characteristic	Barnetson, et al.21 (MMRpredict)	Chen, et al.24 (MMRpro)	Balmaña, et al.13 (PREMM1,2)	Kastrinos, et al. (PREMM1,2,6)
Ascertainment
Derivation	Population-based restricted to age <50 years at CRC diagnosis	Population- and Clinic-based	Clinic-based	Clinic-based
Validation	Population-based	Clinic-based	Clinic-based	Population- and Clinic-based
Genotype detection
MLH1	19 exons	Variable, not specified	19 exons	19 exons
MSH2	16 exons		16 exons	16 exons
MSH6	10 exons		Not performed	10 exons
Deletion testing*	Yes		Yes**	Yes
Total germline-tested individuals:
Derivation cohort	870	N/A	898	4538
Validation cohort	155	144	1016	1827
Total families tested	Not specified	226	1914	4538
Related individuals tested	Yes	Yes	No	No
Total mutations	38	121	285	525
MLH1	15	51	112	204
MSH2	16	63	173	250
MSH6	7	7	N/A	71
Molecular testing included	Yes	Yes	No	No
Gene-specific estimates given	No	Yes§	No	Yes

N/A= not available

^*Deletion testing for MLH1 and MSH2 genes

^**N=1016

^§Estimates provided without evidence for model’s performance