{"entity":{"id":"hereditary-diffuse-gastric-cancer","kind":"term","name":"Hereditary diffuse gastric cancer","aka":["HDGC","hereditary diffuse gastric cancer syndrome"],"tldr":"Hereditary diffuse gastric cancer is an inherited condition, usually caused by a fault in the CDH1 gene, that carries a high risk of a type of stomach cancer that spreads through the stomach wall and of lobular breast cancer. Removing the whole stomach before cancer develops is the recommended option, and expert endoscopy checks can be offered to people who want to delay surgery.","summary":"Autosomal dominant. Largely caused by inactivating germline variants in the tumour suppressor CDH1 (E-cadherin); pathogenic CTNNA1 variants occur in a minority of families. Characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer.\n\nThe 2020 International Gastric Cancer Linkage Consortium guidelines (Blair, Lancet Oncology 2020) relaxed the genetic testing criteria, mainly through less restrictive age limits; recommend prophylactic total gastrectomy as the gastric cancer risk management for pathogenic CDH1 variant carriers; and state increasing confidence that endoscopic surveillance in expert centres can be offered to those who wish to postpone surgery or whose gastric cancer risk is not well defined. The guideline also addresses the long-term effects of total gastrectomy in young patients.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Hereditary_diffuse_gastric_cancer","links":[{"label":"Blair, Lancet Oncol 2020: hereditary diffuse gastric cancer, updated clinical practice guidelines (IGCLC)","url":"https://doi.org/10.1016/S1470-2045(20)30219-9"},{"label":"Orphanet ORPHA:26106","url":"https://www.orpha.net/en/disease/detail/26106"},{"label":"NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet)","url":"https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["gastric","invasive-lobular-carcinoma"],"sections":[],"technologies":["germline-testing"],"targets":["cdh1","ctnna1"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["gastrectomy","endoscopy","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["NHS England genomic test directory: R215 (CDH1 and CTNNA1). Orphanet ORPHA:26106.","Only the abstract of the IGCLC guideline was read; the risk figures and the surveillance protocol in the full text are not recorded here."],"category":"Genomics & genetics"},"route":"/terms/hereditary-diffuse-gastric-cancer/","neighbours":{"cancer":[{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"invasive-lobular-carcinoma","kind":"cancer","name":"Invasive lobular carcinoma of the breast","route":"/cancers/invasive-lobular-carcinoma/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"cdh1","kind":"target","name":"CDH1","route":"/targets/cdh1/"},{"id":"ctnna1","kind":"target","name":"CTNNA1","route":"/targets/ctnna1/"}],"term":[{"id":"endoscopy","kind":"term","name":"Endoscopy (EGD, EUS, ERCP)","route":"/terms/endoscopy/"},{"id":"gastrectomy","kind":"term","name":"Gastrectomy","route":"/terms/gastrectomy/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}],"drug":[{"id":"ambry-brcaplus","kind":"drug","name":"BRCAplus (Ambry Genetics)","route":"/drugs/ambry-brcaplus/"},{"id":"invitae-common-hereditary-cancers-panel","kind":"drug","name":"Invitae Common Hereditary Cancers Panel","route":"/drugs/invitae-common-hereditary-cancers-panel/"},{"id":"myriad-myrisk","kind":"drug","name":"MyRisk Hereditary Cancer (Myriad Genetics)","route":"/drugs/myriad-myrisk/"}]}}