Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system whi...Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system which triggers an exaggerated immune response and subsequent bowel tissue damage. IBD has been more frequently found in families, an observation that could be due to either genetic, environmental or both types of factors present in these families. In addition to expanding our knowledge on IBD pathogenesis, defining the specific contribution to familial IBD of each one of these factors might have also clinical usefulness. We review the available evidence on familial IBD pathogenesis.展开更多
Background Approximately 10%of patients with gastric cancer(GC)have a genetic predisposition toward the disease.However,there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC pop...Background Approximately 10%of patients with gastric cancer(GC)have a genetic predisposition toward the disease.However,there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC population.This study aimed to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer.Methods A total of 40 GC patients from 40 families were recruited from seven medical institutions in China.Next-generation sequencing was performed on 171 genes associated with cancer predisposition.For probands carrying pathogenic/likely pathogenic germline variants,Sanger sequencing was applied to validate the variants in the probands as well as their relatives.Results According to sequencing results,25.0%(10/40)of the patients carried a combined total of 10 pathogenic or likely pathogenic germline variants involving nine different genes:CDH1(n=1),MLH1(n=1),MSH2(n=1),CHEK2(n=1),BLM(n=1),EXT2(n=1),PALB2(n=1),ERCC2(n=1),and SPINK1(n=2).In addition,129 variants of uncertain significance were identified in 27 patients.Conclusions This study indicates that approximately one in every four Chinese GC patients with hereditary high risk factors may harbor pathogenic/likely pathogenic germline alterations in cancer-susceptibility genes.The results further indicate a unique genetic background for GC among Chinese patients.展开更多
基金Supported by Grants from Ministerio de Ciencia e Innovación(SAF2008/03676) and Fundació Miarnau to Sans M
文摘Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system which triggers an exaggerated immune response and subsequent bowel tissue damage. IBD has been more frequently found in families, an observation that could be due to either genetic, environmental or both types of factors present in these families. In addition to expanding our knowledge on IBD pathogenesis, defining the specific contribution to familial IBD of each one of these factors might have also clinical usefulness. We review the available evidence on familial IBD pathogenesis.
文摘Background Approximately 10%of patients with gastric cancer(GC)have a genetic predisposition toward the disease.However,there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC population.This study aimed to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer.Methods A total of 40 GC patients from 40 families were recruited from seven medical institutions in China.Next-generation sequencing was performed on 171 genes associated with cancer predisposition.For probands carrying pathogenic/likely pathogenic germline variants,Sanger sequencing was applied to validate the variants in the probands as well as their relatives.Results According to sequencing results,25.0%(10/40)of the patients carried a combined total of 10 pathogenic or likely pathogenic germline variants involving nine different genes:CDH1(n=1),MLH1(n=1),MSH2(n=1),CHEK2(n=1),BLM(n=1),EXT2(n=1),PALB2(n=1),ERCC2(n=1),and SPINK1(n=2).In addition,129 variants of uncertain significance were identified in 27 patients.Conclusions This study indicates that approximately one in every four Chinese GC patients with hereditary high risk factors may harbor pathogenic/likely pathogenic germline alterations in cancer-susceptibility genes.The results further indicate a unique genetic background for GC among Chinese patients.
