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Association of the Germline Mutations of E-Cadherin Gene(CDH1) in Gastric Cancer

BACKGROUNDAIM: To detect the germline mutations in E-Cadherin gene(CDH1)and to investigate their possible role in familial gastric cancer. MATERIAL AND METHODS: With PCR,denaturing high-performance liquid chromatography(DHPLC)and direct sequencing,we screened all exons of the E-cadherin gene for mutations in80Chinese gastric cancer patients,62of whom had positive family history,we investigated80healthy individuals and conducted a case-control study to investigate whether such mutations affect the risk of developing gastric carcinoma. RESULTS: Two of80gastric cancer patients carried missense mutation Thr340Ala(heterozygosity).This variation was not found in the control population.We confirmed a T→C polymorphism site at position-13in upstream of exon13.The polymorphism was identified in10of80gastric cancer patients and12of80healthy individuals and the frequency of this polymorphism did not differ between the familial gastric cancer patients and controls.We found a germline E-cadherin nonsense mutation at codon751in exon14in19of80patients analyzed.Only7of80healthy individuals were Asn751Asn carriers,and significant difference existed between gastric cancer patients and control population,especially between the elder patients and controls. CONCLUSION: Though the germline mutations of CDH1gene did not occur frequently in familial gastric cancer,CDH1gene Asn751Asn single nucleotide polymorphism might increase the risk of gastric cancer in Chinese population.