Details of Disease | DrugMAP

General Information of Disease (ID: DISUOJ70)

Disease Name	CTNNA1-related diffuse gastric and lobular breast cancer syndrome
Definition	Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.
Disease Hierarchy	DISWWLTC: Gastric adenocarcinoma DISBY98Q: Breast lobular carcinoma DISAEZT5: Hereditary breast carcinoma DISU3O86: Hereditary gastric cancer DISUOJ70: CTNNA1-related diffuse gastric and lobular breast cancer syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTNNA1	OTFC725Z	Definitive	Autosomal dominant	[1]
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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.