Advances in the study of Lynch syndrome in China

Table 1 Identification of mutations in mismatch repair genes in China

Gene	Base variation	Amino acid change	Ref.
MLH1	g.677G>A	Arg226Gln	[7]
	c.107T>A	Ile36Asn	[14]
	IVS2-1G>A	(intron)	[14]
	c.488delG	(intron)	[14]
	c.497T>A	Leu166Och	[14]
	c.498A>C	Leu166Phe	[14]
	c.572G>T	Ser191Ile	[14]
	c.910T>A	Val307Glu	[14]
	c.949C>A	Leu317Met	[14]
	c.1246A>G	Lys416Glu	[14]
	c.1731G>C	-	[14]
	c.1823C>A	Ala608Asp	[14]
	c.1988A>C	Glu663Ala	[14]
	c.2038T>C	Cys680Arg	[14]
	c.2101C>A	Gln701Lys	[14,16-18]
	c.2251_2insAA	-	[14]
	c.1625A>T		[18,90]
	c.194G>A		[18,19]
	c.199G>A		[18,20,21]
	c.649C>T		[18,20,21]
	c.1646T>C		[18]
	c.1721T>C		[18]
	c.1742C>T		[18]
	c.1344insG	Glu448Glyfs*30	[27]
	c.157delGAGG	Glu54Alafs*2	[22]
	c.-64G>T	(promoter)	[22]
	c.2157dupT	Val720Cysfs*3	[22]
	c.1731+15delT	-	[23]
	c.503_4insA	(frame shift)	[49]
MSH2	g.610G>T	Gly204X	[7]
	c.1452-1455delAATG	-	[31]
	c.2108C>A	Ser703Tyr	[24]
	c.2583A>G	Q861Q	[10,49]
	c.899_890insAT	(frame shift)	[49]
	IVS7-1G>A	(splice junction)	[49]
	c.−78_−79delGT	(promoter)	[28]
	c.1216_1219dupCGAC	L407fsX417	[29]
	c.23C>T	Thr8Met	[14,66]
	c.1571G>T	Arg524Leu	[14]
	c.1917T>A	His639Gln	[14]
	c.1955C>A	Pro652His	[14]
	c.2047G>A	Gly683Arg	[14]
	c.206-?_792+?del	-	[5]
	c.1077-?_1276+?del	-	[5,83]
	c.1387-?_1510+?del	-	[5]
	c.2211-?_818+?del	-	[5]
	c.2635+?_(*3084)del	-	[5]
	c.2196T>C	-	[24]
	c.2963C>G	-	[24]
MSH6	c.2297delA	His766Leufs*8	[27]
	c.3488A>T	Glu>Val	[30]
PSM2	c.1532C>T	Thr>Met	[37]
MLH3	c.2152C>T	Pro718Scr	[25]
	c.2615C>G	Scr872Stop	[25]
	c.3488G>A	Gly1163Asp	[25]
	c.666G>A	Lys222Lys	[25]
	c.4335C>A	Gln1445Gln	[25]

Table 2 Frequency of extra colonic cancer related with hereditary nonpolyposis colorectal cancer in China n (%)

Ref.	Extra colonic cancer			n	Diagnostic criteria	Hospital location
[73]	Lung	Gastric	Endometrial		ACII	Liaoning
	56 (20.07)	48 (17.20)	32 (11.47)	279
[52]	Gastric	Glioma	Cardiac/retinoblastoma/ovarian		ACII, JC	Beijing
	13 (41.90)	3 (9.68)	2/2/2 (6.45)	31
[53]	Gastric	Endometrial	Esophagus		ACII, JC, BG	Beijing
	18 (28.13)	11 (17.19)	7 (10.94)	64
[63]	Endometrial	Brest	Lung/Gastric		ACI, ACII, JC	Tianjin
	9 (19.57)	7 (15.22)	6/6 (13.04)	46
[69]	Gastric	Endometrial/Lung/Brest/Bladder			ACI, ACII	Guangdong
	5 (31.25)	2/2/2/2 (1.63)		16
[55]	Gastric	Liver	Endometrial		ACI, ACII, JC, BG	Shanghai
	16 (18.60)	10 (11.63)	8 (9.30)	86
[54]	Gastric	Endometrial	Liver		ACI, ACII	Shanghai
	8 (25.00)	8 (25.00)	5 (15.63)	32
[70]	Gastric	Endometrial	Liver		ACI	Shanghai
	25 (39.68)	11 (17.46)	6 (9.52)	63
[72]	Gastric	Esophagus	Mouth		Chinese C	Zhejiang
	9 (37.50)	3 (12.50)	2 (8.33)	24

ACI: Amsterdam criteria I; ACII: Amsterdam criteria II; JC: Japanese criteria; CC: Chinese criteria; BG: Bethesda guideline.