CDH1-related diffuse gastric and lobular breast cancer
http://purl.obolibrary.org/obo/MONDO_0100488
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. [ https://www.clinicalgenome.org/affiliation/50014/ ]
Term info
- OMIM:137215 (MONDO:equivalentTo)
https://github.com/monarch-initiative/mondo/issues/4549, https://github.com/monarch-initiative/mondo/issues/5720
https://orcid.org/0000-0001-5208-3432
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.
https://omim.org/entry/137215
gastric cancer, hereditary diffuse, gastric cancer, familial diffuse breast cancer, lobular, DGLBC, HDGC, diffuse gastric and lobular breast cancer syndrome, LBC
MONDO:0100488