Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families

Table 1 hMSH2/hMLH1 gene sequence variations identified by sequencing in Chinese HNPCC

Family	Gene/exon	point of mutation	Peptide change	Mutation result	Significance	Reported by
H3	hMLH1/12	g.1151T > A,GTT-GAT	Val-Asp, V384D		SNP	Wang Y et al[7]
H4	hMLH1/2	g.199G > A,GGG-AGG	Gly-Arg, G67R	missense mutation	pathological	Sasaki S et al[8]
H5	hMSH2/1	g.54C > G,GGC-GGG	Gly-Gly ,G18G	silent mutation	synonymous
H6	hMSH2/7	g.1276 + 47T>A		intronic	uncertain
H7	hMLH1/8	g.637G > T,GTG-TTG	Val-Leu, V213L		SNP
H11	hMLH1/15	g.1668-20A > G		intronic	uncertain
	hMSH2/12	g.1886, A > G,CAA-CGA	Gln-Arg, Q629R	missense mutation	pathological	Kim JC et al[9]
H12	hMSH2/15	g.2516, A > G,CAT-CGT	His-Arg, H839R	missense mutation	pathological
H13	hMSH2/10	g.1661 + 12G > A		intronic	SNP	Scott RJ et al[10]
H15	hMSH2/1	g.211+ 9C > G,		intronic	SNP
H16	hMLH1/8	g.649, C > G,CGC-TGC	Arg-Cys, R217C		SNP	Miyaki M et al[11]
	hMSH2/7	g.1221, C > G,CTC-CTG	Leu-Leu, L407L	silent mutation	synonymous
	hMSH2/13	g.2006-6T > C		intronic	SNP
H20	hMLH1/19	g.2250, C > G,TAC-TAG	Tyr-X, Y750X	nonsense mutation	truncated peotein	Syngal S et al[12]
H21	hMSH2/1	g.23C > T, ACG-ATG	Thr-Met, T8M,		SNP	Nomura S et al[13]
	hMSH2/1	g.211 + 9C > G,		intronic	SNP
H22	hMSH2/1	g.23C > G, ACG-ATG	Thr-Met, T8M		SNP	Nomura S et al[13]
	hMSH2/1	g.211 + 9C > G,		intronic	SNP
H24	hMSH2/11	g.1664, delA,	Stopat odon556	frameshift mutation	truncated protein
	hMSH2/11	g.1662-2A > G		intronic	uncertain
H27	hMSH2/11	g.2292G > A, TGG-TGA	Trp-Stop, W764X	nonsense mutation	truncated protein
H28	hMSH2/5	g.795T > C,GTT-GTC	Val-Val, V265V	silent mutation	synonymous
H29	hMLH1/14	g.1591delGT	Stop at codon555	frameshift mutation	truncated protein

g: genomic DNA