CDH1-related diffuse gastric and lobular breast cancer syndrome
Findings
No curated finding names CDH1-related diffuse gastric and lobular breast cancer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.
Definition from the Mondo Disease Ontology (MONDO:0100488), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Stomach cancerHPOHP:0012126
- 5 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDH1HGNC:1748
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
6 names
Resolves to: CDH1-related diffuse gastric and lobular breast cancer syndrome
- Also called
- DGLBCdiffuse gastric and lobular breast cancer syndromegastric cancer, familial diffuse breast cancer, lobulargastric cancer, hereditary diffuseHDGCLBC