Hereditary diffuse gastric adenocarcinoma: genes and variants
Hereditary diffuse gastric adenocarcinoma is linked to 2 analyzed proteins (CDH1 and CTNNA1). 4 DNA variants are known to cause it; 1,541 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary diffuse gastric adenocarcinoma
CDH1: Cadherin-1
Its E-cadherin-mediated adhesion preserves epithelial architecture and suppresses inappropriate cell detachment and invasion. Germline loss-of-function variants cause hereditary diffuse gastric cancer syndrome and substantially increase diffuse gastric and lobular breast-cancer risk.
4 disease-causing and 1,528 uncertain variants in CDH1 are linked to Hereditary diffuse gastric adenocarcinoma.
CTNNA1: Catenin alpha-1
It links cadherin-catenin adhesion complexes to the actin cytoskeleton and helps maintain epithelial integrity and tissue architecture. Germline loss-of-function variants can predispose to diffuse gastric cancer, while biallelic variants can cause severe epithelial and skin disease.
0 disease-causing and 13 uncertain variants in CTNNA1 are linked to Hereditary diffuse gastric adenocarcinoma.
Known disease-causing variants in Hereditary diffuse gastric adenocarcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDH1 G278R | 278 | Cadherin 2 | Disease-causing (★★) |
| CDH1 M1L | 1 | Disease-causing (★★) | |
| CDH1 A634V | 634 | Cadherin 5 | Disease-causing (★★) |
| CDH1 K440N | 440 | Cadherin 3 | Disease-causing (★) |
Same protein, different disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome is also caused by CDH1 variants; they fall mostly in different places as the Hereditary diffuse gastric adenocarcinoma variants (11 disease-causing).
Diseases related to Hereditary diffuse gastric adenocarcinoma
- Ovarian cancer, also linked to CDH1
- Familial cancer of breast, also linked to CDH1
- Colorectal cancer, also linked to CTNNA1
- Hereditary nonpolyposis colon cancer, also linked to CTNNA1
- Hereditary breast ovarian cancer syndrome, also linked to CDH1
- CDH1-related diffuse gastric and lobular breast cancer syndrome, also linked to CDH1
- Prostate cancer, also linked to CDH1
- Breast and/or ovarian cancer, also linked to CDH1
- Patterned macular dystrophy 1, also linked to CTNNA1
- Endometrial carcinoma, also linked to CDH1
- Blepharocheilodontic syndrome 1, also linked to CDH1
Frequently asked questions
Which genes are linked to Hereditary diffuse gastric adenocarcinoma?
In CATVariant, Hereditary diffuse gastric adenocarcinoma is linked to 2 analyzed proteins: CDH1 (Cadherin-1) and CTNNA1 (Catenin alpha-1).
How many genetic variants are linked to Hereditary diffuse gastric adenocarcinoma?
1,572 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,541 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary diffuse gastric adenocarcinoma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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