CDH1-related diffuse gastric and lobular breast cancer syndrome: genes and variants
CDH1-related diffuse gastric and lobular breast cancer syndrome is linked to 1 analyzed protein (CDH1). 11 DNA variants are known to cause it; 53 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 CDH1-related diffuse gastric and lobular breast cancer syndrome
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.
11 disease-causing and 53 uncertain variants in CDH1 are linked to CDH1-related diffuse gastric and lobular breast cancer syndrome.
Known disease-causing variants in CDH1-related diffuse gastric and lobular breast cancer syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDH1 M1K | 1 | Disease-causing (★★★) | |
| CDH1 M1R | 1 | Disease-causing (★★★) | |
| CDH1 M1T | 1 | Disease-causing (★★★) | |
| CDH1 M1I | 1 | Disease-causing (★★★) | |
| CDH1 M1V | 1 | Disease-causing (★★★) | |
| CDH1 G239R | 239 | Cadherin 1 | Disease-causing (★★★) |
| CDH1 E353K | 353 | Cadherin 2 | Disease-causing (★★★) |
| CDH1 E336D | 336 | Cadherin 2 | Disease-causing (★★★) |
| CDH1 T560R | 560 | Cadherin 4 | Disease-causing (★★★) |
| CDH1 T568R | 568 | Cadherin 4 | Disease-causing (★★★) |
| CDH1 R732Q | 732 | Cytoplasmic | Disease-causing (★★★) |
Which prediction tools work for CDH1-related diffuse gastric and lobular breast cancer syndrome
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- SIFT: 90 out of 100
- PolyPhen-2: 72 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Hereditary diffuse gastric adenocarcinoma is also caused by CDH1 variants; they fall mostly in different places as the CDH1-related diffuse gastric and lobular breast cancer syndrome variants (4 disease-causing).
Diseases related to CDH1-related diffuse gastric and lobular breast cancer syndrome
- Ovarian cancer, also linked to CDH1
- Familial cancer of breast, also linked to CDH1
- Hereditary breast ovarian cancer syndrome, also linked to CDH1
- Prostate cancer, also linked to CDH1
- Breast and/or ovarian cancer, also linked to CDH1
- Endometrial carcinoma, also linked to CDH1
- Hereditary diffuse gastric adenocarcinoma, also linked to CDH1
- Blepharocheilodontic syndrome 1, also linked to CDH1
Frequently asked questions
Which genes are linked to CDH1-related diffuse gastric and lobular breast cancer syndrome?
In CATVariant, CDH1-related diffuse gastric and lobular breast cancer syndrome is linked to 1 analyzed protein: CDH1 (Cadherin-1).
How many genetic variants are linked to CDH1-related diffuse gastric and lobular breast cancer syndrome?
143 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 53 are of uncertain significance or have conflicting reports.
Which uncertain variants in CDH1-related diffuse gastric and lobular breast cancer syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for CDH1-related diffuse gastric and lobular breast cancer syndrome?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.90, based on 10 disease-causing and 120 harmless variants).
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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