CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Some signet ring cell carcinomas have been found to have mutations in the E-cadherin gene, which fits the above hypothesis. 25019985 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Our study provides strong in vivo evidence that E-cadherin gene mutations may contribute to the development of diffusely growing gastric carcinomas and support a tumor/metastasis suppressor gene hypothesis. 8033105 1994
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE In diffuse gastric carcinomas harboring CDH1 mutations, LOH was observed in a single case. 11313896 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE A comprehensive search using the keywords "CDH1," "E-Cadherin," "polymorphism," "SNP," and "variant" combined with "breast," "cancer," "tumor," or "carcinomas" was conducted. 27349965 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Endoscopic screening in HDGC families without a pathogenic CDH1 mutation may be reasonable, as we detected signet ring cell carcinomas in 6% of persons screened. 28455161 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Ongoing research focus on the search of genetic causes other than CDH1 or CTNNA1 germline defects; assessment of the pathogenicity and penetrance of CDH1 missense mutations and identification of somatic mechanisms behind the progression from early (indolent) lesions to invasive (lethal) carcinomas. 25439071 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Distinct pattern of allelic loss and inactivation of cadherin 1 and 5 genes in mammary carcinomas arising in p53(+/-) mice. 17327688 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE As TP53 mutation and CDH1 inactivation occur in 80% of human endometrial type II carcinomas, we hypothesized that mouse uteri lacking both Trp53 and Cdh1 would exhibit a phenotype indicative of neoplastic transformation. 24998851 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Mutations in the epithelial cadherin (E-cadherin) gene have been shown to be associated with the occurrence of diffuse gastric carcinomas in affected families. 17609302 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE The utility of this technique is demonstrated by PCR amplification and sequencing of the E-cadherin gene, which codes for a homophilic cell-to-cell adhesion molecule, in early gastric carcinomas of the diffuse type of Lauren's classification. 9387937 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Alterations of the E (epithelial)-cadherin gene are often involved in undifferentiated-type carcinomas of the stomach, but not in the differentiated type. 10547575 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Hypermethylation in the CDH1 promoter region is a frequent phenomenon in poorly differentiated, diffuse gastric carcinomas and it was identified as the main mechanism for the inactivation of the remaining wild-type allele in HDGC cases. 14630673 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE CDH1 germline mutations lead to hereditary diffuse gastric carcinomas. 29168119 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE We found mutations of the E-cadherin gene in 7 of 10 "pure" diffuse carcinomas (70.0%) and in 5 of 6 mixed carcinomas (83.3%). 10211998 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Association of CDH1 single nucleotide polymorphisms with susceptibility to esophageal squamous cell carcinomas and gastric cardia carcinomas. 18197935 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Using whole-exome and targeted sequencing, we find that truncating somatic alterations in the CDH1 gene occur in 84% of plasmacytoid carcinomas and are specific to this histologic variant. 26901067 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Synchronous appendiceal and intramucosal gastric signet ring cell carcinomas in an individual with CDH1-associated hereditary diffuse gastric carcinoma: a case report of a novel association and review of the literature. 23849133 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Large numbers of stage T1a signet ring cell carcinomas exist in the stomachs of CDH1 mutation carriers from a young age, and these foci sometimes show enrichment to the transition zone between the body and antrum. 19432899 2009
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Epithelial cadherin (E-cadherin) gene and protein alterations are implicated in the existence of two clearly distinct types of tumors in the stomach (isolated cell and glandular carcinomas), breast (lobular and ductal carcinomas), and thyroid (papillary and follicular carcinomas), as well as in the occurrence of poorly differentiated foci in colorectal and prostate adenocarcinomas. 12409641 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE We show that a proportion of apparently sporadic early-onset diffuse gastric carcinomas are associated with germline alterations of the E-cadherin gene. 12588804 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE Promoter hypermethylation of hMLH1, p16(INK4a), and CDH1 was detected in 5/20 (25%), 8/20 (40%) and 8/20 (40%) of gastric carcinomas, respectively. 11496321 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE We found high epithelial marker expressions (CK8/18, E-cadherin, membranous β-catenin) only in a distinct variety of carcinomas. 27729431 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group CTD_human Promoter methylation as a common mechanism for inactivating E-cadherin in human salivary gland adenoid cystic carcinoma. 17520682 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE This study was conducted to evaluate the promoter methylation status of p16(INK4a) and E-cadherin genes in 22 specimens of cervical carcinomas, four cervical cancer cell lines (HeLa, SiHa, Caski, C33A), and 20 human papillomavirus negative specimens, obtained from normal cervical swabs, using the methylation-specific PCR approach. 20112504 2009