Based On The Next-generation Sequencing Detection Of Mutations In A Gastric Cancer Family

Objective:The genetic mechanism of gastric cancer has not been fully elucidated.The aim of this study is to screen the genes of the family of gastric cancer by the Next-generation sequencing to identify the pathogenic genes of this family.Methods: The family of gastric cancer comes from the Second Hospital of Lanzhou University.The same generation of people have three patients,one of them was died.Informed consent,all the family members were examined through detail medical history,laboratory examinations,CT and so on.Then we collected all the family members of peripheral blood stored in the Cancer Research Center.Summary of family clinical-genetic characteristics,built the family spectrum.Finally,we detected one of four members with the Next-generation sequencing in order to find which gene mutation involved.Results: one of the family is the high-moderately differentiated adenocarcinoma,one is the signet ring cell carcinoma,one is unknow.Twelve family members underwent endoscopy,nine of them diagnosed with benign heart disease,.Eight family members examined Hp examination,seven of them diagnosed with Helicobacter pylori infection.Unfortunately,due to the complexity of the family,through the analysis of data processing,SMAD4 gene and TP53 gene mutation only exists in some family memberswhich can not determine the relevant gene pathogenesis.The CDH1 gene mutation was not conserved and the sequencing depth was low,so there may be an error,.Finally we can’t found pathogenic mutations.Conclusion: The clinical manifestations of family members show that the family have a high proportion of Hp infection.At the third generation of the family appear atrophy and intestinal metaplasia in the early stage.The most effective way to prevent gastric cancer is to regular examinations.The results showed that the pathogenic genes was not currently known 71 common tumor-related genes,possibly was a other gastric cancer-related genes.It may be a new mutation gene.Through the generationsequencing,we found lots of new SNPs and Indels.It is revealed that the Nextgeneration sequencing plays an increasingly important role in the clinical diagnosis and molecular diagnosis of gastric cancer,which makes up the deficiency of traditional genetic counseling mode and provides more effective help for patients with family history of gastric cancer.