Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma

Table 1 hMSH2/hMLH1 gene sequence variations identified by sequencing

Sample No.	Gene/Exon	Point of mutation	Mutation result	Reported previously by
231	hMSH2/3	g.2610G > T, GGA→TGA	G204X, Truncated protein (nonsense mutation)	None
10, 12, 15, 16, 28	hMSH2/10	g.1661+12 A > G	In intron, polymorphism	Scott et al[16]
26	hMSH2/14	g.2211-2 A > C	Truncated protein (splice point mutation)	None
11	hMLH1/3	g.265 G > T, GAG→TAG	E89X, Truncated protein (nonsense mutation)	Wang et al[17]
14	hMLH1/6	g.545+3 A > G	Truncated protein (splice point mutation)	Pensotti et al[18]
8	hMLH1/8	g.655 A > G, ATC→GTC	I219V (missense mutation)	Tomlinson et al[19]
25	hMLH1/8	g.677 G > A, CGA→CAA	R226Q (missense mutation)	None
18	hMLH1/9	g.790+1 G > A	Truncated protein (splice point mutation)	Cunningham[20]

¹The first Mongolian family with hMSH2 gene mutation in China.

²G refers to genomic DNA.