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Symbol CDH1 contributors: mct - updated : 14-12-2015
HGNC name cadherin 1, type 1, E-cadherin (epithelial)
HGNC id 1748
corresponding disease(s) HDGC , MRCPH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
during development of carcinomas (see TSG16H and TSG16A)
tumoral somatic mutation      
mutated in signet ring cell carcinoma of stomach (with poor clinical outcome), in colorectal, intestines and lobular breast cancers (see TSG16A)
tumoral   LOH    
aberrant methylation of the promoter leading to LOH in gastric cancer and in ulcerative colitis with potential progression to colorectal cancer
tumoral germinal mutation     loss of function
loss of function by germinal mutation in sporadic, early-onset diffuse gastric carcinoma and colorectal, breast, prostate cancer (late stage)
tumoral   LOH    
in invasive breast lobular carcinoma with or without gene mutation
tumoral     --low  
in invasive and metastatic gastric tumours, but enhanced motility and invasion associated with mutant CDH1 is sensitive to inhibition of RAC1 and RHOA, RHOB
tumoral     --over  
in ovarian carcinoma cells, associated with increased CDH1 promoter activity, increased adherens junction formation, decreased beta-catenin signaling-dependent LEF1 activity
tumoral     --low  
required to initiate metastatic outgrowth of breast cancer
constitutional     --low  
is a key initiating event in EMT (epithelial-mesenchymal transition)
tumoral     --low  
were significantly decreased in oral squamous cell carcinoma cells that expressed SNAIl
  • to listeria monocytogenes
  • to cleft lip, with or without cleft palate
  • to recurrence of bladder cancer
  • to primary open angle glaucoma
  • to prostate cancer
  • Variant & Polymorphism SNP , insertion/deletion
  • single-nucleotide polymorphism in the promoter modifiyng the risk of prostate cancer
  • deletion, removing the extracellular cadherin repeat domains, associated to cleft lip/palate in families with hereditary diffuse gastric cancer
  • promoter polymorphism (C-160A)increasing the risk of recurrence of bladder cancer
  • 3'-UTR C/T polymorphism associated with primary open angle glaucoma
  • the C/A variant -160 base pairs associated with prostate cancer risk, and bladder cancer risk
  • Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Therapy target
    is a potential therapeutic option for treatment of osteoporosis
    important adhesion molecule for chick retinal ganglion cells neurite outgrowth