Table 1

Novel germline variants of MMR genes in Chinese patients with CRC

Patient	Age (years)	Stage	Gene	Variant	Pathogenicity	Sanger sequencing	LS/sporadic CRCs	MMR IHC	MSI
P1	62	III	MLH1	c.1641dupA:p.Y548Ifs*9	Pathogenic	MLH1	LS	dMMR	MSI-H
P6	51	II	MLH1	c.304G>T:p.E102*	Pathogenic	MLH1	LS	dMMR	MSI-H
P8	41	III	MLH1	c.1852_1854delAAG:p.K618delK	Pathogenic	MLH1	LS	dMMR	MSI-H
P17	64	II	MLH1	c.1929_1938delTGACAACTAT:p.I643Mfs*15	Pathogenic	MLH1	LS	dMMR	MSI-H
P20	42	II	MLH1	c.1631_1634delAAAC:p.Q544Pfs*46	Pathogenic	MLH1	LS	dMMR	MSI-H
P23	49	II	MSH6	c.2104dupT:p.S702Ffs*4	Pathogenic	MSH6	LS	dMMR	MSI-H
P33	55	II	MSH6	c.1250delA:p.K417Sfs*36	Pathogenic	MSH6	LS	dMMR	MSI-H
P43	57	III	MSH6	c.1280delA:p.Y427Sfs*26	Pathogenic	MSH6	LS	dMMR	MSI-H
P48	65	II	MSH2	c.2251G>T:p.Gly751*	Pathogenic	MSH2	LS	dMMR	MSI-H
P52	64	II	MSH6	c.855_858delTGAG:p.S285Rfs*5	Pathogenic	MSH6	LS	dMMR	MSI-H
P56	26	II	MLH1	c.2107G>T:p.E703*	Pathogenic	MLH1	LS	dMMR	MSI-H
P72	56	II	MSH2	c.1978delG:p.D660Ifs*25	Pathogenic	MSH2	LS	dMMR	MSI-H
P82	56	II	MSH2	c.505delA:p.I169Yfs*5	Pathogenic	MSH2	LS	dMMR	MSI-H
P86	51	III	MLH1	c.753delC:p.S252Qfs*2	Pathogenic	MLH1	LS	dMMR	MSI-H
P91	52	II	MSH2	c.1981A>T:p.K661*	Pathogenic	MSH2	LS	dMMR	MSI-H
P119	46	I	MSH2	c.1472delA:p.K491Rfs*6	Pathogenic	MSH2	LS	dMMR	MSI-H
P124	48	II	MLH1	c.1852_1854delAAG:p.K618delK	Pathogenic	MLH1	LS	dMMR	MSI-H
P142	46	II	MSH6	c.3646G>T:p.Gly1216*	Pathogenic	MSH6	LS	dMMR	MSI-H
P143	45	I	MSH2	c.2588_2601del14:p.Y863Sfs*14	Pathogenic	MSH2	LS	dMMR	MSI-H
P152	59	II	MSH2	c.273dupT:p.L92Sfs*8	Pathogenic	MSH2	LS	dMMR	MSI-H
P152	59	II	MSH2	c.516delA:p.K172Nfs*2	Pathogenic	MSH2	LS	dMMR	MSI-H
P154	54	II	MSH2	c.643_644insG:p.Q215Rfs*17	Pathogenic	MSH2	LS	dMMR	MSI-H

MMR, mismatch repair; dMMR, deficient MMR; pMMR, proficient MMR; WT, wildtype; MSI, microsatellite instability; MSI-H, MSI-high; MSI-L, MSI-low.