{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:53:36Z","timestamp":1792130016308,"version":"4.4.0"},"reference-count":61,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,12,7]]},"published-print":{"date-parts":[[2010,7]]},"abstract":"<jats:p>25\u201330% of families fulfilling the criteria for hereditary diffuse gastric cancer have germline mutations of the <jats:italic>CDH1<\/jats:italic> (E-cadherin) gene. In light of new data and advancement of technologies, a multidisciplinary workshop was convened to discuss genetic testing, surgery, endoscopy and pathology reporting. The updated recommendations include broadening of <jats:italic>CDH1<\/jats:italic> testing criteria such that: histological confirmation of diffuse gastric criteria is only required for one family member; inclusion of individuals with diffuse gastric cancer before the age of 40\u2005years without a family history; and inclusion of individuals and families with diagnoses of both diffuse gastric cancer (including one before the age of 50\u2005years) and lobular breast cancer. Testing is considered appropriate from the age of consent following counselling and discussion with a multidisciplinary team. In addition to direct sequencing, large genomic rearrangements should be sought. Annual mammography and breast MRI from the age of 35\u2005years is recommended for women due to the increased risk for lobular breast cancer. In mutation positive individuals prophylactic total gastrectomy at a centre of excellence should be strongly considered. Protocolised endoscopic surveillance in centres with endoscopists and pathologists experienced with these patients is recommended for: those opting not to have gastrectomy, those with mutations of undetermined significance, and in those families for whom no germline mutation is yet identified. The systematic histological study of prophylactic gastrectomies almost universally shows pre-invasive lesions including in situ signet ring carcinoma with pagetoid spread of signet ring cells. Expert histopathological confirmation of these early lesions is recommended.<\/jats:p>","DOI":"10.1136\/jmg.2009.074237","type":"journal-article","created":{"date-parts":[[2010,6,30]],"date-time":"2010-06-30T04:57:57Z","timestamp":1277873877000},"page":"436-444","source":"Crossref","is-referenced-by-count":453,"title":["Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research"],"prefix":"10.1136","volume":"47","author":[{"given":"Rebecca C","family":"Fitzgerald","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Hardwick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Huntsman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Carneiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parry","family":"Guilford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Norton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishnadath","family":"Ragunath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J Han","family":"Van Krieken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Dwerryhouse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Caldas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2010,6,30]]},"reference":[{"key":"2025101709540037000_47.7.436.1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0030442"},{"key":"2025101709540037000_47.7.436.2","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1996.v110.pm8612988"},{"key":"2025101709540037000_47.7.436.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.12.942"},{"key":"2025101709540037000_47.7.436.4","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19920701)70:1<50::AID-CNCR2820700109>3.0.CO;2-I"},{"key":"2025101709540037000_47.7.436.5","first-page":"873","article-title":"Familial gastric cancer: overview and guidelines for management","volume":"36","author":"Caldas","year":"1999","journal-title":"J Med Genet"},{"key":"2025101709540037000_47.7.436.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10068"},{"key":"2025101709540037000_47.7.436.7","doi-asserted-by":"publisher","DOI":"10.1038\/32918"},{"key":"2025101709540037000_47.7.436.8","doi-asserted-by":"publisher","DOI":"10.1002\/path.2426"},{"key":"2025101709540037000_47.7.436.9","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2009.02.065"},{"key":"2025101709540037000_47.7.436.10","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.29611"},{"key":"2025101709540037000_47.7.436.11","doi-asserted-by":"publisher","DOI":"10.1001\/jama.297.21.2360"},{"key":"2025101709540037000_47.7.436.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2005.12.003"},{"key":"2025101709540037000_47.7.436.13","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-004-1156-4"},{"key":"2025101709540037000_47.7.436.14","doi-asserted-by":"publisher","DOI":"10.1177\/106689690601400105"},{"key":"2025101709540037000_47.7.436.15","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-05-0247"},{"key":"2025101709540037000_47.7.436.16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp046"},{"key":"2025101709540037000_47.7.436.17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20880"},{"key":"2025101709540037000_47.7.436.18","doi-asserted-by":"publisher","DOI":"10.1101\/gr.212802"},{"key":"2025101709540037000_47.7.436.19","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg048"},{"key":"2025101709540037000_47.7.436.20","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-006-0091-z"},{"key":"2025101709540037000_47.7.436.21","doi-asserted-by":"publisher","DOI":"10.1002\/path.2415"},{"key":"2025101709540037000_47.7.436.22","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2002.010447"},{"key":"2025101709540037000_47.7.436.23","doi-asserted-by":"publisher","DOI":"10.1002\/path.1564"},{"key":"2025101709540037000_47.7.436.24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200106213442504"},{"key":"2025101709540037000_47.7.436.25","doi-asserted-by":"publisher","DOI":"10.1067\/msy.2001.117099"},{"key":"2025101709540037000_47.7.436.26","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(20010701)92:1<181::AID-CNCR1307>3.0.CO;2-J"},{"key":"2025101709540037000_47.7.436.27","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31815e7f1a"},{"key":"2025101709540037000_47.7.436.28","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2004.049171"},{"key":"2025101709540037000_47.7.436.29","doi-asserted-by":"publisher","DOI":"10.1097\/MOG.0b013e32830c91c7"},{"key":"2025101709540037000_47.7.436.30","doi-asserted-by":"publisher","DOI":"10.1097\/01.sla.0000254370.29893.e4"},{"key":"2025101709540037000_47.7.436.31","doi-asserted-by":"publisher","DOI":"10.1007\/s10434-000-0346-9"},{"key":"2025101709540037000_47.7.436.32","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.4648"},{"key":"2025101709540037000_47.7.436.33","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.4001"},{"key":"2025101709540037000_47.7.436.34","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/bjs.1800790319","article-title":"Lymph node metastasis from early gastric cancer: endoscopic resection of tumour","volume":"79","author":"Sano","year":"1992","journal-title":"Br J Surg"},{"key":"2025101709540037000_47.7.436.35","doi-asserted-by":"publisher","DOI":"10.1097\/SLA.0b013e318155a7a1"},{"key":"2025101709540037000_47.7.436.36","doi-asserted-by":"publisher","DOI":"10.1177\/0115426505020005517"},{"key":"2025101709540037000_47.7.436.37","doi-asserted-by":"publisher","DOI":"10.1097\/SLA.0b013e318167748c"},{"key":"2025101709540037000_47.7.436.38","first-page":"142","article-title":"Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer","volume":"11","author":"Francis","year":"2007","journal-title":"JSLS"},{"key":"2025101709540037000_47.7.436.39","doi-asserted-by":"publisher","DOI":"10.1007\/s10120-008-0478-3"},{"key":"2025101709540037000_47.7.436.40","doi-asserted-by":"publisher","DOI":"10.1159\/000063162"},{"key":"2025101709540037000_47.7.436.41","first-page":"488","article-title":"Nutritional consequences of total gastrectomy: the relationship between mode of reconstruction, postprandial symptoms, and body composition","volume":"108","author":"Miholic","year":"1990","journal-title":"Surgery"},{"key":"2025101709540037000_47.7.436.42","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-04-0599"},{"key":"2025101709540037000_47.7.436.43","first-page":"16","article-title":"Hereditary diffuse gastric cancer","volume":"7","author":"Oelschlager","year":"2005","journal-title":"MedGenMed"},{"key":"2025101709540037000_47.7.436.44","doi-asserted-by":"publisher","DOI":"10.1016\/j.jamcollsurg.2005.12.017"},{"key":"2025101709540037000_47.7.436.45","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc079016"},{"key":"2025101709540037000_47.7.436.46","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23501"},{"key":"2025101709540037000_47.7.436.47","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2008.01982_17.x"},{"key":"2025101709540037000_47.7.436.48","doi-asserted-by":"publisher","DOI":"10.1097\/00042737-200512000-00026"},{"key":"2025101709540037000_47.7.436.49","doi-asserted-by":"publisher","DOI":"10.1097\/MEG.0b013e328305ba19"},{"key":"2025101709540037000_47.7.436.50","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2006.043679"},{"key":"2025101709540037000_47.7.436.51","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0344-0338(11)81173-8","article-title":"Five types of pyloric cells in the antral mucosa of the stomach","volume":"188","author":"Rubio","year":"1992","journal-title":"Pathol Res Pract"},{"key":"2025101709540037000_47.7.436.52","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199605000-00005"},{"key":"2025101709540037000_47.7.436.53","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1111\/j.1365-2559.1987.tb01846.x","article-title":"Subnuclear vacuolated mucous cells: a novel abnormality of simple mucin-secreting cells of non-specialized gastric mucosa and Brunner's glands","volume":"11","author":"Thompson","year":"1987","journal-title":"Histopathology"},{"key":"2025101709540037000_47.7.436.54","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/apm.1965.64.1.31","article-title":"The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. an attempt at a histo-clinical classification","volume":"64","author":"Lauren","year":"1965","journal-title":"Acta Pathol Microbiol Scand"},{"key":"2025101709540037000_47.7.436.55","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/S0344-0338(11)80878-2","article-title":"New elements for an updated classification of the carcinomas of the stomach","volume":"191","author":"Carneiro","year":"1995","journal-title":"Pathol Res Pract"},{"key":"2025101709540037000_47.7.436.56","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"2025101709540037000_47.7.436.57","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90143-M"},{"key":"2025101709540037000_47.7.436.58","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018275"},{"key":"2025101709540037000_47.7.436.59","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/j.ejso.2007.03.001","article-title":"Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management","volume":"33","author":"Corso","year":"2007","journal-title":"Eur J Surg Oncol"},{"key":"2025101709540037000_47.7.436.60","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-2457"},{"key":"2025101709540037000_47.7.436.61","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-3021"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2009.074237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:54:09Z","timestamp":1760720049000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2009.074237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,30]]},"references-count":61,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2010,6,30]]},"published-print":{"date-parts":[[2010,7]]}},"alternative-id":["10.1136\/jmg.2009.074237"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2009.074237","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,30]]}}}