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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

database cross reference
  • OMIM:137215 (MONDO:equivalentTo)
abbreviation
HDGC [ OMIM:137215 ]

abbreviation
LBC [ OMIM:137215 ]

abbreviation
DGLBC [ OMIM:137215 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4549, https://github.com/monarch-initiative/mondo/issues/5720

created by

https://orcid.org/0000-0001-5208-3432

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.

exactMatch

https://omim.org/entry/137215

has exact synonym

gastric cancer, hereditary diffuse, gastric cancer, familial diffuse breast cancer, lobular, DGLBC, HDGC, diffuse gastric and lobular breast cancer syndrome, LBC

id

MONDO:0100488