CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Hereditary Diffuse Gastric Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.720 GeneticVariation BEFREE Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling. 29769627 2018
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling. 29769627 2018
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.720 GeneticVariation BEFREE These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing. 27880784 2016
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing. 27880784 2016
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761 2013
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.710 GeneticVariation BEFREE One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T). 23264079 2013
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR Hereditary diffuse gastric cancer: a family diagnosis and treatment. 22723466 2013
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. 17522512 2007
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 16061854 2005
dbSNP: rs587780537
rs587780537
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. 29577179 2019
dbSNP: rs876658865
rs876658865
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). 30745422 2019
dbSNP: rs1555518221
rs1555518221
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		GC 0.700 GeneticVariation 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
dbSNP: rs587776398
rs587776398
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Next generation sequencing-based emerging trends in molecular biology of gastric cancer. 29511593 2018
dbSNP: rs786203576
rs786203576
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 28688938 2018
dbSNP: rs876660771
rs876660771
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing. 30264118 2018
dbSNP: rs1555509622
rs1555509622
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Next-generation sequencing in familial breast cancer patients from Lebanon. 28202063 2017
dbSNP: rs1555509623
rs1555509623
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Next-generation sequencing in familial breast cancer patients from Lebanon. 28202063 2017
dbSNP: rs1555509623
rs1555509623
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Next-generation sequencing in familial breast cancer patients from Lebanon. 28202063 2017
dbSNP: rs587780537
rs587780537
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 28873162 2017
dbSNP: rs876658575
rs876658575
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites. 29156750 2017
dbSNP: rs876660771
rs876660771
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR A Life Potentially Saved Through Hereditary Cancer Panel Testing. 28195815 2017
dbSNP: rs878854691
rs878854691
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Next-generation sequencing in familial breast cancer patients from Lebanon. 28202063 2017
dbSNP: rs1064795267
rs1064795267
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. 27064202 2016
dbSNP: rs1064795267
rs1064795267
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs267606712
rs267606712
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016). 27730413 2016