Table 2.

Clinical, pathological and molecular findings in CRC tumors with MSH2 LGR-associated LS.

CaseNo.	Age, y/Sex	MMR loss	MSI status	MSH2 abnormal location	Tumor location	Stage	Gene of LGR	NGS result	MLPA result	mRNA result	LS	Family history
49	61/M	MSH2- MSH6-	MSI-H	No	Proximal colon and rectum	II	MSH2	Neg	MSH2 -16 del	ND	Yes	Yes
90	44/M	MSH2- MSH6-	MSI-H	No	Distal colon	I	MSH2	Neg	MSH2 Exon 7 del	ND	Yes	Yes
100	54/M	MSH2- MSH6-	MSI-H	No	Proximal colon	IV	MSH2 EPCAM4		EPCAM Exon 9 and MSH2 Exon 1-14 del	ND	Yes	Yes
164#	17/F	MSH2- MSH6-	MSI-H	Cytoplasmic staining	Rectum	IV	MSH2 EPCAM	Neg	EPCAM Exon 3-9 and MSH2 Exon 1 del	EPCAM-MSH2 fusion	Yes	Yes
165	53/M	MSH2- MSH6-	MSI-H	No	Proximal colon	III	EPCAM	Neg	EPCAM Exon 9 del	ND	Yes	Yes
168	37/M	MSH2- MSH6-	MSI-H	No	Distal colon	II	MSH2 EPCAM	Neg	EPCAM Exon 9 and MSH2 Exon 1-14 del	ND	Yes	Yes
205	48/F	MSH2- MSH6-	MSI-H	No	Rectum	II	MSH2	Neg	MSH2 Exon 3-8 del	ND	Yes	Yes
212	60/M	MSH2- MSH6-	MSI-H	No	Rectum	I	MSH2	Neg	MSH2 Exon 8-11 del	ND	Yes	Yes
234	28/M	MSH2- MSH6-	MSI-H	No	Rectum	I	MSH2	Neg	MSH2 Exon 3 del	ND	Yes	Yes
271#	45/M	MSH2- MSH6-	MSI-H	Cytoplasmic staining	Distal colon	IV	MSH2 EPCAM	Neg	EPCAM Exon 3-9 and MSH2 Exon 1 del	EPCAM-MSH2 fusion	Yes	Yes
318	49/M	MSH2- MSH6-	MSI-H	No	Rectum	I	MSH2	Neg	MSH2 Exon 1-3 del	ND	Yes	Yes
345	27/F	MSH2- MSH6-	MSI-H	Cytoplasmic staining	Proximal colon	III	EPCAM	Neg	EPCAM Exon 3-9 del	EPCAM-MSH2 fusion	Yes	Yes

Del, deletion; F, female; IHC, immunohistochemistry; LGR, large genomic rearrangement; LS, Lynch syndrome; M, male; MLPA, multiplex ligation-dependent probe amplification; MMR, mismatch repair; MSI, microsatellite instability; Neg, negative; NGS, next-generation sequencing; No., number; ND, not done. # indicates that the patient is from a family pedigree shown in Figure 2A .