Details of Disease

General Information of Disease (ID: DISEQ6Z0)

• Disease Name: CDH1-related diffuse gastric and lobular breast cancer syndrome
• Synonyms: DGLBC; diffuse gastric and lobular breast cancer syndrome; gastric cancer, familial diffuse breast cancer, lobular; LBC; HDGC; gastric cancer, hereditary diffuse
• 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.
• Disease Hierarchy:
  DISGXLG5: Hereditary neoplastic syndrome
  DISEQ6Z0: CDH1-related diffuse gastric and lobular breast cancer syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH1	TTLAWO6	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH1	OTFJMXPM	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.