Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population
Copyright policy )Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population
Epidemiologic, structural, and bioinformatic analyses were used to evaluate variants in the MSH2 and MLH1 genes in 187 subjects with suspected hereditary gastrointestinal cancer in China. An increased frequency of variants was observed in exon 7 of the MSH2 gene; there was a statistical difference (P T (p.Leu390Phe), c.1255C>A (p.Gln419Lys), and c.1261C>A (p.Leu421Met) in exon 7 and c.518T>G (p.Leu173Arg) in exon 3 of MSH2 were suspected as predisposing to gastrointestinal cancer. Variants c.505A>G (p.Ile169Val), c.1221C>G (p.Leu407Leu) and c.1223A>G (p.Tyr408Cys) in MSH2 and c.655 A>G (p.Ile219 Val) and c.927C>T (p.Pro309Pro) in MLH1 might be merely polymorphisms. Consequences of the variant c.2101C>A (p.Gln701Lys) in MLH1 remain to be elucidated.
- Model Animal Research Center China (People's Republic of)
- Nanjing University China (People's Republic of)
- Nanjing University China (People's Republic of)
- Southeast University China (People's Republic of)
Models, Molecular, China, Molecular Structure, Age Factors, Genetic Variation, Exons, Middle Aged, MutS Homolog 2 Protein, Stomach Neoplasms, Humans, Disease Susceptibility, Colorectal Neoplasms, Gastrointestinal Neoplasms
Models, Molecular, China, Molecular Structure, Age Factors, Genetic Variation, Exons, Middle Aged, MutS Homolog 2 Protein, Stomach Neoplasms, Humans, Disease Susceptibility, Colorectal Neoplasms, Gastrointestinal Neoplasms
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