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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/09/2006
Symbol HDGC
Location 16q22.1
Name hereditary diffuse gastric carcinoma
Other name(s) gastric cancer
Corresponding gene CDH1
Main clinical features
  • highly penetrant hereditary diffuse gastric cancer with early onset and poor prognosis
  • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    Type malignancy
    Gene product
    Name E-cadherin protein interacting with catenins, assembling the cell adhesion complex involved with E-cadherin mediated cell:cell adhesion ; tumor-suppressor gene participating to the APC pathway ; reduced expression of E-cadherin is regarded as one of the main molecular events involved in dysfunction of the cell-cell adhesion system, triggering cancer invasion and metastasis.
    Gene mutationChromosome rearrangementEffectComments
    various types     germline truncating mutations
    missense     germline causal mutations and neutral variants
    deletion     genomic deletions involving NAHR in alu repeat sequences
    Remark(s) germline CHD1 alterations are found in ~46 percent of patients with familial diffuse gastric cancer; tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms involving somatic CHD1 epigenetic changes or mutations