Hereditary diffuse gastric cancer

URI: https://gptkb.org/entity/Hereditary_diffuse_gastric_cancer
GPTKB entity
Statements (29)
Predicate Object
gptkbp:instanceOf hereditary cancer syndrome
gptkbp:alsoKnownAs gptkb:HDGC
gptkbp:associatedWith gptkb:CDH1
CTNNA1
gptkbp:diagnosisCriteria family history of diffuse gastric cancer
CDH1 pathogenic variant
gptkbp:firstDescribed 1998
gptkbp:geneticTestingAvailable yes
gptkbp:guidelines NCCN guidelines available
gptkbp:hasOrphanetID ORPHA:773
https://www.w3.org/2000/01/rdf-schema#label Hereditary diffuse gastric cancer
gptkbp:ICD-10_code gptkb:C16
gptkbp:inheritance autosomal dominant
gptkbp:managedBy breast cancer screening
prophylactic gastrectomy
intensive endoscopic surveillance
gptkbp:OMIM 137215
gptkbp:pathology gptkb:signet_ring_cell_carcinoma
gptkbp:penetrance high for gastric cancer in CDH1 mutation carriers
gptkbp:prevalence rare
gptkbp:reduces prophylactic surgery
gptkbp:riskFactor gptkb:diffuse_gastric_cancer
gptkb:lobular_breast_cancer
gptkbp:sexSpecificRisk higher breast cancer risk in females
gptkbp:symptom often asymptomatic until advanced
gptkbp:typicalOnset adulthood
gptkbp:bfsParent gptkb:hereditary_breast_cancer
gptkb:Inherited_Cancer_Syndromes
gptkbp:bfsLayer 7