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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| 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 |
|
| Genetic determination | autosomal dominant |
| Function/system disorder | digestive tract/gastrointestinal |
| neoplasia | |
| 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. |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| 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 |