Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE We used a Markov model of HDGC progression associated with pathogenic variants in CDH1 to simulate outcomes of hypothetical cohorts with different ages at time of PTG (ages 20-79 years). 31220641 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primarily characterised by an extreme lifetime risk of developing diffuse gastric cancer. 29589180 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE The E-cadherin gene (CDH1) is frequently mutated in diffuse gastric cancer and lobular breast cancer, and germline mutations predispose to the cancer syndrome Hereditary Diffuse Gastric Cancer. 30066183 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Review of the literature revealed a significant enrichment of CDH1 mutations within the EC domains in CLP/HDGC families (Fisher's exact test, p = 0.007) in comparison to CDH1 mutations associated with HDGC only. 30306390 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer? 30466290 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC). 30542785 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 CausalMutation disease CLINVAR Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). 30745422 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE This is especially detrimental in syndromes such as hereditary diffuse gastric cancer due to a CDH1 germline mutation, for which lifesaving prevention is possible. 31109593 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Gastric cancer standardized incidence ratio estimates relative to Surveillance, Epidemiology, and End Results (SEER) Program incidence for pathogenic CDH1 variants from families ascertained without regard to HDGC criteria. 31246251 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC. 30745422 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 CausalMutation disease CLINVAR Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. 29577179 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE In addition, germline mutations in CDH1 predispose to the autosomal dominant cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). 31467357 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 CausalMutation disease CLINVAR Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 28688938 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 CausalMutation disease CLINVAR Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. 29769627 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE We describe the case of a male with recurrent gastric cancer who was diagnosed with HDGC secondary to the CDH1 mutation, and we also describe the patient's pedigree and outcomes of recommended genetic testing. 29376063 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. 29769627 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed. 30311375 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE We did whole-exome sequencing on DNA extracted from the blood of 39 individuals (28 individuals diagnosed with hereditary diffuse gastric cancer and 11 unaffected first-degree relatives) in 22 families without pathogenic CDH1 variants. 29706558 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Here, we present a case series of three siblings with family history of HDGC who tested positive for the CDH1 mutation and describe their surgical treatment course, post-operative management, and follow-up as they pertain to the updated guidelines. 30007404 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients. 28455161 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Variants in CDH1 have been linked to familial hereditary diffuse gastric cancer and invasive lobular breast cancer; however, no cases of gastric or breast cancer have been reported in our BCDS cases. 29348693 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Eighty-five individuals fulfilling HDGC criteria underwent 201 endoscopies; 54 (63.5%) tested positive for CDH1 mutation. 28688938 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE 11 patients with confirmed CDH1 mutation who were found to have HDGC in a prophylactic total gastrectomy were collected. 29307626 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease BEFREE Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. 29131691 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.800 GeneticVariation disease CLINVAR A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay. 29798843 2018