CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Hereditary Diffuse Gastric Cancer ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		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
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE 25-30% of families fulfilling the criteria for hereditary diffuse gastric cancer have germline mutations of the CDH1 (E-cadherin) gene. 20591882 2010
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome caused, in 30-40% of cases, by germline mutations of the E-cadherin/CDH1 gene. 15141383 2004
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is defined by germline mutations in the E-cadherin gene, CDH-1. 15753528 2005
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome defined by germline mutation of the E-cadherin gene (CDH-1). 16527687 2006
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer is a rare autosomal dominant cancer susceptibility syndrome caused by germline E-cadherin (CDH1) mutations in 40% of cases with a high degree of penetrance. 18391748 2008
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is caused by germline E-cadherin (CDH1) mutations in 25-40% of tested families. 18825658 2008
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) results from truncating mutations of the CDH1 (E-cadherin) gene. 19408054 2009
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer is a cancer syndrome caused by germline mutations in the gene for the cell adhesion protein E-cadherin (CDH1). 19432899 2009
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070 2010
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC), an autosomal dominant cancer susceptibility syndrome, is largely attributable to germline mutations and deletions in the gene encoding E-cadherin, CDH1. 20534996 2010
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is characterized as an autosomal dominant cancer susceptibility syndrome largely attributable to germline mutations and deletions in the gene encoding E-cadherin, CDH1. 21872467 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. 22388873 2012
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1. 24037103 2014
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 25979631 2015
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. 26759166 2016
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. 27256430 2016
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE HDGC is predominantly caused by germline mutations in CDH1 and in a minority by mutations in other genes, including CTNNA1. 27573781 2017
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) syndrome is caused by germline mutations in the CDH1 gene and carries a lifetime gastric cancer risk of approximately 70 % in men and 56 % in women. 27752808 2016
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is associated with E-cadherin 1 (<i>CDH1</i>) germline mutations. 28789394 2017
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant syndrome characterised by multigenerational diffuse gastric cancer, and is mainly caused by germline alterations in the CDH1 gene. 30014492 2018
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE E-cadherin gene mutations in association with familial gastric cancer is a new disease for which prophylactic surgery must be considered. 11602891 2001
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE CDH1 gene mutations are not present in Polish families with HDGC defined by the modified clinical criteria. 20842455 2010
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.800 GeneticVariation disease BEFREE CDH1 germline alterations occur in about 40% of hereditary diffuse gastric cancer (HDGC) families. 21106365 2011