{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:53:32Z","timestamp":1792130012432,"version":"4.4.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:00:00Z","timestamp":1726012800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with\n                    <jats:italic>CDH1<\/jats:italic>\n                    pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in\n                    <jats:italic>CDH1<\/jats:italic>\n                    PV carriers with family history of DGC between 18 and 40 years. Annual EGD with biopsies according to established protocols is recommended in carriers with no SRC and no family history of DGC, with consideration of pTG. Retrospective analysis of asymptomatic patients with\n                    <jats:italic>CDH1<\/jats:italic>\n                    PVs with \u2265\u20091 surveillance EGD. Outcomes included pre-operative EGD detection of SRC, surgical stage, and progression to advanced DGC in those electing surveillance with EGD. 48 patients with\n                    <jats:italic>CDH1<\/jats:italic>\n                    PVs who had\u2009\u2265\u20091 EGD were included. 24\/ 48 (50%) underwent gastrectomy, including pTG in 7 patients. SRCC were detected on gastrectomy specimen in 21\/24 (87.5%). SRCs were identified by EGD in 17\/21 patients who had SRCC on gastrectomy specimens (sensitivity 81%, 17\/21). All cancers were stage pT1a. The remaining 17 patients (50% with a family history of gastric cancer) continue in annual EGD surveillance with a median follow-up of 34.6 months. No SRCC or advanced DGC have been diagnosed. No\n                    <jats:italic>CDH1<\/jats:italic>\n                    PV carriers without SRCC on random biopsies followed in an endoscopic program developed advanced DGC over a median follow up of 3 years. In the short term, EGD surveillance might be a safe alternative to immediate pTG in experienced hands in referral centers.\n                  <\/jats:p>","DOI":"10.1007\/s10689-024-00421-z","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T18:02:20Z","timestamp":1726077740000},"page":"617-626","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1"],"prefix":"10.1007","volume":"23","author":[{"given":"Lady Katherine","family":"Mejia Perez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"O\u2019Malley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjun","family":"Chatterjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruishen","family":"Lyu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qijun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Cruise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"LaGuardia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Liska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Macaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Matthew","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol A.","family":"Burke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"issue":"9","key":"421_CR1","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1001\/jamaoncol.2019.1208","volume":"5","author":"ME Roberts","year":"2019","unstructured":"Roberts ME, Ranola JMO, Marshall ML et al (2019) Comparison of CDH1 Penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers. JAMA Oncol 5(9):1325\u20131331. https:\/\/doi.org\/10.1001\/jamaoncol.2019.1208","journal-title":"JAMA Oncol"},{"issue":"12","key":"421_CR2","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1136\/jmedgenet-2019-105991","volume":"56","author":"RM Xicola","year":"2019","unstructured":"Xicola RM, Li S, Rodriguez N et al (2019) Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. J Med Genet 56(12):838\u2013843. https:\/\/doi.org\/10.1136\/jmedgenet-2019-105991","journal-title":"J Med Genet"},{"key":"421_CR3","doi-asserted-by":"publisher","unstructured":"Ryan CE, Fasaye GA, Gallanis AF et al (2024) Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. Jun 14. https:\/\/doi.org\/10.1001\/jama.2024.10852. Epub ahead of print. PMID: 38873722","DOI":"10.1001\/jama.2024.10852"},{"issue":"11","key":"421_CR4","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1001\/jamasurg.2020.3356","volume":"155","author":"EL Vos","year":"2020","unstructured":"Vos EL, Salo-Mullen EE, Tang LH et al (2020) Indications for total gastrectomy in CDH1 mutation carriers and outcomes of risk-reducing minimally invasive and open gastrectomies. JAMA Surg 155(11):1050\u20131057. https:\/\/doi.org\/10.1001\/jamasurg.2020.3356","journal-title":"JAMA Surg"},{"issue":"1","key":"421_CR5","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.cgh.2019.10.033","volume":"19","author":"M Friedman","year":"2021","unstructured":"Friedman M, Adar T, Patel D et al (2021) Surveillance Endoscopy in the management of Hereditary diffuse gastric Cancer syndrome. Clin Gastroenterol Hepatol 19(1):189\u2013191. https:\/\/doi.org\/10.1016\/j.cgh.2019.10.033","journal-title":"Clin Gastroenterol Hepatol"},{"key":"421_CR6","doi-asserted-by":"publisher","unstructured":"Laszkowska M, Tang L, Vos E et al (2023) Factors Associated with detection of Hereditary diffuse gastric Cancer on Endoscopy in individuals with germline CDH1 mutations. Gastrointest Endosc S0016\u20135107. https:\/\/doi.org\/10.1016\/j.gie.2023.04.2071","DOI":"10.1016\/j.gie.2023.04.2071"},{"issue":"1","key":"421_CR7","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1470-2045(22)00700-8","volume":"24","author":"CYC Lee","year":"2023","unstructured":"Lee CYC, Olivier A, Honing J et al (2023) Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study. Lancet Oncol 24(1):107\u2013116. https:\/\/doi.org\/10.1016\/S1470-2045(22)00700-8","journal-title":"Lancet Oncol"},{"issue":"9","key":"421_CR8","doi-asserted-by":"publisher","first-page":"2594","DOI":"10.1245\/s10434-011-1648-9","volume":"18","author":"Y Chen","year":"2011","unstructured":"Chen Y, Kingham K, Ford JM et al (2011) A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer. Ann Surg Oncol 18(9):2594\u20132598. https:\/\/doi.org\/10.1245\/s10434-011-1648-9","journal-title":"Ann Surg Oncol"},{"issue":"2","key":"421_CR9","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.gie.2017.06.028","volume":"87","author":"EZ Mi","year":"2018","unstructured":"Mi EZ, Mi EZ, di Pietro M et al (2018) Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Gastrointest Endosc 87(2):408\u2013418. https:\/\/doi.org\/10.1016\/j.gie.2017.06.028","journal-title":"Gastrointest Endosc"},{"issue":"1","key":"421_CR10","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1053\/j.gastro.2019.03.047","volume":"157","author":"MF Jacobs","year":"2019","unstructured":"Jacobs MF, Dust H, Koeppe E et al (2019) Outcomes of Endoscopic Surveillance in individuals with genetic predisposition to Hereditary diffuse gastric Cancer. Gastroenterology 157(1):87\u201396. https:\/\/doi.org\/10.1053\/j.gastro.2019.03.047","journal-title":"Gastroenterology"},{"issue":"10","key":"421_CR11","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1055\/a-1157-8678","volume":"52","author":"JM Van Dieren","year":"2020","unstructured":"Van Dieren JM, Kodach LL, Den Hartog P et al (2020) Gastroscopic surveillance with targeted biopsies compared with random biopsies in CDH1 mutation carriers. Endoscopy 52(10):839\u2013846. https:\/\/doi.org\/10.1055\/a-1157-8678","journal-title":"Endoscopy"},{"issue":"4","key":"421_CR12","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/S1470-2045(23)00057-8","volume":"24","author":"B Asif","year":"2023","unstructured":"Asif B, Sarvestani AL, Gamble LA et al (2023) Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study. Lancet Oncol 24(4):383\u2013391. https:\/\/doi.org\/10.1016\/S1470-2045(23)00057-8","journal-title":"Lancet Oncol"},{"issue":"8","key":"421_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S1470-2045(20)30219-9","volume":"21","author":"VR Blair","year":"2020","unstructured":"Blair VR, McLeod M, Carneiro F et al (2020) Hereditary diffuse gastric Cancer: updated clinical practice guidelines. Lancet Oncol 21(8):1\u201332. https:\/\/doi.org\/10.1016\/S1470-2045(20)30219-9","journal-title":"Lancet Oncol"},{"key":"421_CR14","doi-asserted-by":"publisher","unstructured":"Yamashina M (1986) Early gastric carcinoma. Cancer 58(6):1333\u20131339. https:\/\/doi.org\/10.1002\/1097-0142(19860915)58:6%3C1333::aid-cncr2820580625%3E3.0.co;2-b","DOI":"10.1002\/1097-0142(19860915)58:6%3C1333::aid-cncr2820580625%3E3.0.co;2-b"},{"issue":"1","key":"421_CR15","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1245\/s10434-020-09274-z","volume":"28","author":"Y Hu","year":"2021","unstructured":"Hu Y, Vos EL, Baser RE et al (2021) Longitudinal analysis of Quality-of-life recovery after gastrectomy for Cancer. Ann Surg Oncol 28(1):48\u201356. https:\/\/doi.org\/10.1245\/s10434-020-09274-z","journal-title":"Ann Surg Oncol"},{"issue":"11","key":"421_CR16","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1016\/j.ypat.2012.11.042","volume":"36","author":"H Fujita","year":"2012","unstructured":"Fujita H, Lennerz JKM, Chung DC et al (2012) Endoscopic surveillance of patients with hereditary diffuse gastric cancer: biopsy recommendations after topographic distribution of cancer foci in a series of 10 CDH1-mutated gastrectomies. Am J Surg Pathol 36(11):1709\u20131717. https:\/\/doi.org\/10.1016\/j.ypat.2012.11.042","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"421_CR17","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.gie.2013.11.040","volume":"80","author":"YC Lim","year":"2014","unstructured":"Lim YC, Di Pietro M, O\u2019Donovan M et al (2014) Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. Gastrointest Endosc 80(1):78\u201387. https:\/\/doi.org\/10.1016\/j.gie.2013.11.040","journal-title":"Gastrointest Endosc"},{"issue":"11","key":"421_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/cancers13112622","volume":"13","author":"MGK Benesch","year":"2021","unstructured":"Benesch MGK, Bursey SR, O\u2019connell AC et al (2021) Cdh1 gene mutation hereditary diffuse gastric cancer outcomes: analysis of a large cohort, systematic review of endoscopic surveillance and secondary cancer risk postulation. Cancers (Basel) 13(11):1\u201318. https:\/\/doi.org\/10.3390\/cancers13112622","journal-title":"Cancers (Basel)"},{"issue":"3","key":"421_CR19","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1055\/a-1201-3125","volume":"53","author":"A Pappas","year":"2021","unstructured":"Pappas A, Tan WK, Waldock W et al (2021) Single-bite versus double-bite technique for mapping biopsies during endoscopic surveillance for hereditary diffuse gastric cancer: a single-center, randomized trial. Endoscopy 53(3):246\u2013253. https:\/\/doi.org\/10.1055\/a-1201-3125","journal-title":"Endoscopy"},{"issue":"2","key":"421_CR20","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/s00535-020-01749-w","volume":"56","author":"BF Curtin","year":"2021","unstructured":"Curtin BF, Gamble LA, Schueler SA et al (2021) Enhanced endoscopic detection of occult gastric cancer in carriers of pathogenic CDH1 variants. J Gastroenterol 56(2):139\u2013146. https:\/\/doi.org\/10.1007\/s00535-020-01749-w","journal-title":"J Gastroenterol"},{"issue":"7","key":"421_CR21","doi-asserted-by":"publisher","first-page":"1890","DOI":"10.1245\/s10434-009-0471-z","volume":"16","author":"PC Hebbard","year":"2009","unstructured":"Hebbard PC, MacMillan A, Huntsman D et al (2009) Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol 16(7):1890\u20131895. https:\/\/doi.org\/10.1245\/s10434-009-0471-z","journal-title":"Ann Surg Oncol"},{"issue":"12","key":"421_CR22","doi-asserted-by":"publisher","first-page":"E1305","DOI":"10.1055\/s-0042-112582","volume":"04","author":"R H\u00fcneburg","year":"2016","unstructured":"H\u00fcneburg R, Marwitz T, van Heteren P et al (2016) Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients. Endosc Int Open 04(12):E1305\u2013E1310. https:\/\/doi.org\/10.1055\/s-0042-112582","journal-title":"Endosc Int Open"},{"issue":"2","key":"421_CR23","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.cgh.2019.04.064","volume":"18","author":"S Kumar","year":"2020","unstructured":"Kumar S, Katona BW, Long JM et al (2020) Endoscopic Ultrasound has limited utility in diagnosis of gastric Cancer in carriers of CDH1 mutations. Clin Gastroenterol Hepatol 18(2):505\u2013508e1. https:\/\/doi.org\/10.1016\/j.cgh.2019.04.064","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"2","key":"421_CR24","doi-asserted-by":"publisher","first-page":"216","DOI":"10.21037\/jgo-20-430","volume":"12","author":"SA Schueler","year":"2021","unstructured":"Schueler SA, Gamble LA, Curtin BF et al (2021) Evaluation of confocal laser endomicroscopy for detection of occult gastric carcinoma in CDH1 variant carriers. J Gastrointest Oncol 12(2):216\u2013225. https:\/\/doi.org\/10.21037\/jgo-20-430","journal-title":"J Gastrointest Oncol"},{"issue":"7","key":"421_CR25","doi-asserted-by":"publisher","first-page":"2137","DOI":"10.1053\/j.gastro.2009.02.065","volume":"136","author":"C Oliveira","year":"2009","unstructured":"Oliveira C, Sousa S, Pinheiro H et al (2009) Quantification of epigenetic and genetic 2nd hits in CDH1 during Hereditary diffuse gastric Cancer syndrome progression. Gastroenterology 136(7):2137\u20132148. https:\/\/doi.org\/10.1053\/j.gastro.2009.02.065","journal-title":"Gastroenterology"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-024-00421-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-024-00421-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-024-00421-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,26]],"date-time":"2024-10-26T05:17:56Z","timestamp":1729919876000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-024-00421-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,11]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["421"],"URL":"https:\/\/doi.org\/10.1007\/s10689-024-00421-z","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-4518444\/v1","asserted-by":"object"}]},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,11]]},"assertion":[{"value":"2 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"David Liska: Consultant for Olympus and Davol, Research support for Freenome Inc. Carol A Burke: Research support for Janssen Pharmaceuticals, Freenome Inc., Emtora Biosciences. Consultant for Janssen Pharmaceuticals, SLA Pharmaceuticals, Sebela Pharmaceuticals, Guardant. Speaker for Ambry Genetics. Member of US Multi-Society Task Force on Colorectal Cancer, National Comprehensive Cancer Network Guideline on Genetic High Risk\/Familial Colorectal. None of the other authors have anything to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosures"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}