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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. 17960397 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE To investigate whether E-cadherin gene (CDH1) mutations occur in colorectal cancer, we screened 49 human colon carcinoma cell lines from 43 patients by single-strand conformation polymorphism (SSCP) analysis and direct sequencing. 10051639 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Hypermethylation of the E-cadherin gene (CDH1) has not been described previously in colorectal cancer. 11171827 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In one family there was evidence of non-penetrance and susceptibility to both gastric and colorectal cancer; thus, in addition to six cases of gastric cancer, a CDH1 mutation carrier developed colorectal cancer at age 30 years. 10072428 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Comprehensive analysis of colorectal cancer-risk loci and survival outcome: A prognostic role for CDH1 variants. 31734605 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Following GWAS and candidate studies evaluated the association between the CDH1 rs9929218 polymorphism and CRC in European, Asian and American populations. 27259261 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 single nucleotide polymorphisms did not modify the risk of CRC development. 19634113 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Our findings highlight the importance of genetic testing for MMR gene mutations in children with colorectal cancer and suggest further investigation into the prognostic role of E-cadherin in pediatric CRAC. 21985494 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In conclusion, the CDH1 -160C/A polymorphism may be a susceptible predictor for the risk of CRC in Caucasians. 29283329 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Breast and colorectal cancer have also been reported in CDH1-associated HDGC. 11729114 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We evaluated ORs between location of truncating variants of CDH1 and incidence of colorectal cancer, breast cancer and cancer at young age (gastric cancer at <40 or breast cancer <50 years of age). 30745422 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In conclusion, heterozygosity and mutant homozygosity as well as the combination of both TP53 Arg72Pro and CDH1 rs16260 polymorphisms are responsible to increase the risk of colorectal cancer development in Bangladeshi population. 28554075 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE These findings suggest a distinct molecular pathway for methylation of APC2, p14, and ECAD genes from those previously described for colorectal cancers with BRAF or KRAS mutations. 21455633 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis. 19915572 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The -347G-->GA promoter polymorphism in E-cadherin gene is associated with specific CRC features, and may be a prognostic factor rather than a susceptibility factor during the progression of CRC. 19908344 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Data indicated that certain CDH1 gene promoter -160 C > A and -347 G > GA variants might affect the susceptibility of CRC. 21997289 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE A conclusion could be drawn from the research that CDH1 -C160A polymorphism provides a possible protection against CRC, which is especially evident in Caucasian and hospital populations. 22339265 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In a population-based case-control study (498 cases and 600 controls), we assessed the association of CCND1 G870A and CDH1 C-160A polymorphisms with CRC risk. 18196581 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE These results indicate that CDH1-160 C>A polymorphism does not contribute to the genetic susceptibility of CRC and the polymorphism may not be a direct effect on the progression of the disease in Turkish CRC patients. 30880750 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Notably, genes implicated in mucosal barrier function (ECM1, CDH1, HNF4α, and laminin B1) confer risk of UC; furthermore, E-cadherin is the first genetic correlation between colorectal cancer and UC. 21319274 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631 2008