{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T07:56:35Z","timestamp":1743148595801,"version":"3.40.3"},"publisher-location":"Dordrecht","reference-count":76,"publisher":"Springer Netherlands","isbn-type":[{"type":"print","value":"9789400765696"},{"type":"electronic","value":"9789400765702"}],"license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013]]},"DOI":"10.1007\/978-94-007-6570-2_5","type":"book-chapter","created":{"date-parts":[[2013,6,4]],"date-time":"2013-06-04T10:52:23Z","timestamp":1370343143000},"page":"35-49","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["E-Cadherin Germline Mutations"],"prefix":"10.1007","author":[{"given":"Joana","family":"Carvalho","sequence":"first","affiliation":[]},{"given":"Hugo","family":"Pinheiro","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Oliveira","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2013,5,4]]},"reference":[{"key":"5_CR00051","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1136\/jmg.2006.043133","volume":"43","author":"JT Bacani","year":"2006","unstructured":"Bacani JT, Soares M, Zwingerman R, di Nicola N, Senz J, Riddell R, Huntsman DG, Gallinger S (2006) CDH1\/E-cadherin germline mutations in early-onset gastric cancer. J Med Genet 43:867\u2013872. doi:10.1136\/jmg.2006.043133","journal-title":"J Med Genet"},{"key":"5_CR00052","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1002\/path.2415","volume":"216","author":"ME Barber","year":"2008","unstructured":"Barber ME, Save V, Carneiro F, Dwerryhouse S, Lao-Sirieix P, Hardwick RH, Caldas C, Fitzgerald RC (2008) Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol 216:286\u2013294. doi:10.1002\/path.2415","journal-title":"J Pathol"},{"key":"5_CR00053","doi-asserted-by":"crossref","first-page":"6107","DOI":"10.1002\/j.1460-2075.1995.tb00301.x","volume":"14","author":"G Berx","year":"1995","unstructured":"Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F (1995) E-cadherin is a tumour\/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14:6107\u20136115","journal-title":"EMBO J"},{"key":"5_CR00054","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<226::AID-HUMU2>3.0.CO;2-D","volume":"12","author":"G Berx","year":"1998","unstructured":"Berx G, Becker KF, Hofler H, van Roy F (1998) Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 12:226\u2013237. doi:10.1002\/(SICI)1098-1004(1998)12:4<226::AID-HUMU2>3.0.CO;2-D","journal-title":"Hum Mutat"},{"key":"5_CR00055","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1136\/jmg.2004.018275","volume":"41","author":"AR Brooks-Wilson","year":"2004","unstructured":"Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, Huntsman D (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41:508\u2013517. doi:10.1136\/jmg.2004.018275","journal-title":"J Med Genet"},{"key":"5_CR00056","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1136\/jmg.36.12.873","volume":"36","author":"C Caldas","year":"1999","unstructured":"Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36:873\u2013880. doi:10.1136\/jmg.36.12.873","journal-title":"J Med Genet"},{"key":"5_CR00057","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1136\/jcp.2006.043679","volume":"61","author":"F Carneiro","year":"2008","unstructured":"Carneiro F, Oliveira C, Suriano G, Seruca R (2008) Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol 61:25\u201330. doi:10.1136\/jcp.2006.043679","journal-title":"J Clin Pathol"},{"key":"5_CR00058","doi-asserted-by":"publisher","first-page":"2160","DOI":"10.1111\/j.1572-0241.2008.01982_17.x","volume":"103","author":"O Caron","year":"2008","unstructured":"Caron O, Schielke A, Svrcek M, Flejou JF, Garzon J, Olschwang S, Sezeur A (2008) Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family. Am J Gastroenterol 103:2160\u20132161. doi:10.1111\/j.1572-0241.2008.01982_17.x","journal-title":"Am J Gastroenterol"},{"key":"5_CR00059","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/path.4032","volume":"228","author":"J Carvalho","year":"2012","unstructured":"Carvalho J, van Grieken NC, Pereira PM, Sousa S, Tijssen M, Buffart TE, Diosdado B, Grabsch H, Santos MA, Meijer G, Seruca R, Carvalho B, Oliveira C (2012) Lack of microRNA-101 causes E-cadherin functional deregulation through EZH2 up-regulation in intestinal gastric cancer. J Pathol 228:31\u201344. doi:10.1002\/path.4032","journal-title":"J Pathol"},{"key":"5_CR000510","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.ejca.2010.10.011","volume":"47","author":"G Corso","year":"2011","unstructured":"Corso G, Pedrazzani C, Pinheiro H, Fernandes E, Marrelli D, Rinnovati A, Pascale V, Seruca R, Oliveira C, Roviello F (2011) E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer. Eur J Cancer 47:631\u2013639. doi:10.1016\/j.ejca.2010.10.011","journal-title":"Eur J Cancer"},{"issue":"7","key":"5_CR000511","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1200\/JCO.2012.44.4612","volume":"31","author":"G Corso","year":"2012","unstructured":"Corso G, Carvalho J, Marrelli D, Vindigni C, Carvalho B, Seruca R, Roviello F, Oliveira C (2012) Somatic mutations and deletions of the E-cadherin gene predict poor survival of gastric cancer patients. J Clin Oncol 31(7):868\u2013875. doi:10.1200\/JCO.2012.44.4612","journal-title":"J Clin Oncol"},{"key":"5_CR000512","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/nrg2933","volume":"12","author":"MJ Dixon","year":"2011","unstructured":"Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167\u2013178. doi:10.1038\/nrg2933","journal-title":"Nat Rev Genet"},{"key":"5_CR000513","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1097\/00042737-200106000-00016","volume":"13","author":"L Dussaulx-Garin","year":"2001","unstructured":"Dussaulx-Garin L, Blayau M, Pagenault M, Le Berre-Heresbach N, Raoul JL, Campion JP, David V, Bretagne JF (2001) A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination. Eur J Gastroenterol Hepatol 13:711\u2013715","journal-title":"Eur J Gastroenterol Hepatol"},{"key":"5_CR000514","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1093\/jnci\/94.22.1680","volume":"94","author":"C Figueiredo","year":"2002","unstructured":"Figueiredo C, Machado JC, Pharoah P, Seruca R, Sousa S, Carvalho R, Capelinha AF, Quint W, Caldas C, van Doorn LJ, Carneiro F, Sobrinho-Simoes M (2002) Helicobacter pylori and interleukin 1 genotyping: an opportunity to identify high-risk individuals for gastric carcinoma. J Natl Cancer Inst 94:1680\u20131687. doi:10.1093\/jnci\/94.22.1680","journal-title":"J Natl Cancer Inst"},{"key":"5_CR000515","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1136\/jmg.2009.074237","volume":"47","author":"RC Fitzgerald","year":"2010","unstructured":"Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436\u2013444. doi:10.1136\/jmg.2009.074237","journal-title":"J Med Genet"},{"key":"5_CR000516","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1136\/jmg.2005.031385","volume":"43","author":"T Frebourg","year":"2006","unstructured":"Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attie T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R (2006) Cleft lip\/palate and CDH1\/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 43:138\u2013142. doi:10.1136\/jmg.2005.031385","journal-title":"J Med Genet"},{"key":"5_CR000517","first-page":"4086","volume":"58","author":"SA Gayther","year":"1998","unstructured":"Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Halling K, MacLeod P, Powell SM, Jackson CE, Ponder BA, Caldas C (1998) Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 58:4086\u20134089","journal-title":"Cancer Res"},{"key":"5_CR000518","first-page":"337","volume":"125","author":"SR Ghaffari","year":"2009","unstructured":"Ghaffari SR, Dastan J, Rafati M, Sabokbar T (2009) Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer. Hum Genet 125:337","journal-title":"Hum Genet"},{"key":"5_CR000519","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1038\/79120","volume":"26","author":"WM Grady","year":"2000","unstructured":"Grady WM, Willis J, Guilford PJ, Dunbier AK, Toro TT, Lynch H, Wiesner G, Ferguson K, Eng C, Park JG, Kim SJ, Markowitz S (2000) Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet 26:16\u201317. doi:10.1038\/79120","journal-title":"Nat Genet"},{"key":"5_CR000520","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/32918","volume":"392","author":"P Guilford","year":"1998","unstructured":"Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402\u2013405. doi:10.1038\/32918","journal-title":"Nature"},{"key":"5_CR000521","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9","volume":"14","author":"PJ Guilford","year":"1999","unstructured":"Guilford PJ, Hopkins JB, Grady WM, Markowitz SD, Willis J, Lynch H, Rajput A, Wiesner GL, Lindor NM, Burgart LJ, Toro TT, Lee D, Limacher JM, Shaw DW, Findlay MP, Reeve AE (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249\u2013255. doi:10.1002\/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2\u20139","journal-title":"Hum Mutat"},{"key":"5_CR000522","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10120-009-0531-x","volume":"13","author":"P Guilford","year":"2010","unstructured":"Guilford P, Humar B, Blair V (2010) Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1\u201310. doi:10.1007\/s10120-009-0531-x","journal-title":"Gastric Cancer"},{"key":"5_CR000523","doi-asserted-by":"publisher","first-page":"4772","DOI":"10.1128\/MCB.00323-08","volume":"28","author":"N Herranz","year":"2008","unstructured":"Herranz N, Pasini D, Diaz VM, Franci C, Gutierrez A, Dave N, Escriva M, Hernandez-Munoz I, Di Croce L, Helin K, Garcia de Herreros A, Peiro S (2008) Polycomb complex 2 is required for E-cadherin repression by the Snail1 transcription factor. Mol Cell Biol 28:4772\u20134781. doi:10.1128\/MCB.00323-08","journal-title":"Mol Cell Biol"},{"key":"5_CR000524","doi-asserted-by":"publisher","first-page":"8192","DOI":"10.1038\/sj.onc.1205921","volume":"21","author":"B Humar","year":"2002","unstructured":"Humar B, Graziano F, Cascinu S, Catalano V, Ruzzo AM, Magnani M, Toro T, Burchill T, Futschik ME, Merriman T, Guilford P (2002) Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer. Oncogene 21:8192\u20138195. doi:10.1038\/sj.onc.1205921","journal-title":"Oncogene"},{"key":"5_CR000525","doi-asserted-by":"publisher","first-page":"7972","DOI":"10.1158\/0008-5472.CAN-07-1058","volume":"67","author":"GJ Hurteau","year":"2007","unstructured":"Hurteau GJ, Carlson JA, Spivack SD, Brock GJ (2007) Overexpression of the microRNA hsa-miR-200c leads to reduced expression of transcription factor 8 and increased expression of E-cadherin. Cancer Res 67:7972\u20137976. doi:10.1158\/0008-5472.CAN-07-1058","journal-title":"Cancer Res"},{"key":"5_CR000526","doi-asserted-by":"publisher","first-page":"69","DOI":"10.3322\/caac.20107","volume":"61","author":"A Jemal","year":"2011","unstructured":"Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D (2011) Global cancer statistics. CA Cancer J Clin 61:69\u201390. doi:10.3322\/caac.20107","journal-title":"CA Cancer J Clin"},{"key":"5_CR000527","first-page":"914","volume":"42","author":"Y Jiang","year":"2004","unstructured":"Jiang Y, Wan YL, Wang ZJ, Zhao B, Zhu J, Huang YT (2004) Germline E-cadherin gene mutation screening in familial gastric cancer kindreds. Chin J Surg (Zhonghua wai ke za zhi) 42:914\u2013917","journal-title":"Chin J Surg (Zhonghua wai ke za zhi)"},{"key":"5_CR000528","first-page":"287","volume":"63","author":"EG Jones","year":"1964","unstructured":"Jones EG (1964) Familial gastric cancer. N Z Med J 63:287\u2013296","journal-title":"N Z Med J"},{"key":"5_CR000529","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1002\/ijc.10258","volume":"98","author":"BA Jonsson","year":"2002","unstructured":"Jonsson BA, Bergh A, Stattin P, Emmanuelsson M, Gronberg H (2002) Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer (Journal international du cancer) 98:838\u2013843. doi:10.1002\/ijc.10258","journal-title":"Int J Cancer (Journal international du cancer)"},{"key":"5_CR000530","doi-asserted-by":"publisher","first-page":"2360","DOI":"10.1001\/jama.297.21.2360","volume":"297","author":"P Kaurah","year":"2007","unstructured":"Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D (2007) Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 297:2360\u20132372. doi:10.1001\/jama.297.21.2360","journal-title":"JAMA"},{"key":"5_CR000531","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/S0002-9440(10)65129-2","volume":"155","author":"G Keller","year":"1999","unstructured":"Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker KF, Mueller J, Siewert JR, Hofler H (1999) Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 155:337\u2013342. doi:10.1016\/S0002-9440(10)65129-2","journal-title":"Am J Pathol"},{"key":"5_CR000532","doi-asserted-by":"publisher","first-page":"e89","DOI":"10.1136\/jmg.2003.015594","volume":"41","author":"G Keller","year":"2004","unstructured":"Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, Mateus AR, Seruca R, Biedermann K, Huntsman D, Doring C, Holinski-Feder E, Neutzling A, Siewert JR, Hofler H (2004) Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. J Med Genet 41:e89. doi:10.1136\/jmg.2003.015594","journal-title":"J Med Genet"},{"key":"5_CR000533","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/ijc.26398","volume":"131","author":"I Kluijt","year":"2012","unstructured":"Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simoes-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N (2012) CDH1-Related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer 131:367\u2013376. doi:10.1002\/ijc.26398","journal-title":"Int J Cancer"},{"key":"5_CR000534","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1007\/s10434-000-0346-9","volume":"7","author":"JB Koea","year":"2000","unstructured":"Koea JB, Karpeh MS, Brennan MF (2000) Gastric cancer in young patients: demographic, clinicopathological, and prognostic factors in 92 patients. Ann Surg Oncol 7:346\u2013351","journal-title":"Ann Surg Oncol"},{"key":"5_CR000535","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/apm.1965.64.1.31","volume":"64","author":"P Lauren","year":"1965","unstructured":"Lauren P (1965) The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31\u201349","journal-title":"Acta Pathol Microbiol Scand"},{"key":"5_CR000536","first-page":"48","volume-title":"WHO classification of tumors of the digestive system","author":"GY Lauwers","year":"2010","unstructured":"Lauwers GY, Carneiro F, Graham DY, Curado MP, Franceschi S, Montgomery E, Tatematsu M, T H (2010) Gastric carcinoma. In: WHO classification of tumors of the digestive system. IARC Press, Lyon, pp 48\u201368"},{"key":"5_CR000537","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1007\/s10689-011-9463-9","volume":"10","author":"HT Lynch","year":"2011","unstructured":"Lynch HT, Aldoss I, Lynch JF (2011) The identification and management of hereditary diffuse gastric cancer in a large Jordanian family. Fam Cancer 10:667\u2013672. doi:10.1007\/s10689-011-9463-9","journal-title":"Fam Cancer"},{"key":"5_CR000538","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1038\/sj.onc.1204234","volume":"20","author":"JC Machado","year":"2001","unstructured":"Machado JC, Oliveira C, Carvalho R, Soares P, Berx G, Caldas C, Seruca R, Carneiro F, Sobrinho-Simoes M (2001) E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma. Oncogene 20:1525\u20131528. doi:10.1038\/sj.onc.1204234","journal-title":"Oncogene"},{"key":"5_CR000539","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1136\/jmg.2007.051268","volume":"44","author":"S Masciari","year":"2007","unstructured":"Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, Harris LN, Pinheiro HC, Troussard A, Miron P, Tung N, Oliveira C, Collins L, Schnitt S, Garber JE, Huntsman D (2007) Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 44:726\u2013731. doi:10.1136\/jmg.2007.051268","journal-title":"J Med Genet"},{"key":"5_CR000540","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1016\/j.yexcr.2009.02.020","volume":"315","author":"AR Mateus","year":"2009","unstructured":"Mateus AR, Simoes-Correia J, Figueiredo J, Heindl S, Alves CC, Suriano G, Luber B, Seruca R (2009) E-cadherin mutations and cell motility: a genotype-phenotype correlation. Exp Cell Res 315:1393\u20131402. doi:10.1016\/j.yexcr.2009.02.020","journal-title":"Exp Cell Res"},{"key":"5_CR000541","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1016\/j.humpath.2010.01.022","volume":"41","author":"KE Matsukuma","year":"2010","unstructured":"Matsukuma KE, Mullins FM, Dietz L, Zehnder JL, Ford JM, Chun NM, Schrijver I (2010) Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. Hum Pathol 41:1200\u20131203. doi:10.1016\/j.humpath.2010.01.022","journal-title":"Hum Pathol"},{"key":"5_CR000542","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1097\/MEG.0b013e32832bab9a","volume":"22","author":"B Mayrbaeurl","year":"2010","unstructured":"Mayrbaeurl B, Keller G, Schauer W, Burgstaller S, Czompo M, Hoebling W, Knoflach P, Duba HC, Hoefler H, Thaler J (2010) Germline mutation of the E-cadherin gene in three sibling cases with advanced gastric cancer: clinical consequences for the other family members. Eur J Gastroenterol Hepatol 22:306\u2013310. doi:10.1097\/MEG.0b013e32832bab9a","journal-title":"Eur J Gastroenterol Hepatol"},{"key":"5_CR000543","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1016\/0022-3468(93)90120-A","volume":"28","author":"TW McGill","year":"1993","unstructured":"McGill TW, Downey EC, Westbrook J, Wade D, de la Garza J (1993) Gastric carcinoma in children. J Pediatr Surg 28:1620\u20131621. doi:10.1016\/0022-3468(93)90120-A","journal-title":"J Pediatr Surg"},{"key":"5_CR000544","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1002\/humu.9473","volume":"28","author":"H More","year":"2007","unstructured":"More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo AM, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P (2007) Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 28:203. doi:10.1002\/humu.9473","journal-title":"Hum Mutat"},{"key":"5_CR000545","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1002\/bjs.1800720415","volume":"72","author":"M Mori","year":"1985","unstructured":"Mori M, Sugimachi K, Ohiwa T, Okamura T, Tamura S, Inokuchi K (1985) Early gastric carcinoma in Japanese patients under 30 years of age. Br J Surg 72:289\u2013291","journal-title":"Br J Surg"},{"key":"5_CR000546","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1002\/(SICI)1096-9098(199908)71:4<214::AID-JSO2>3.0.CO;2-D","volume":"71","author":"T Nakamura","year":"1999","unstructured":"Nakamura T, Yao T, Niho Y, Tsuneyoshi M (1999) A clinicopathological study in young patients with gastric carcinoma. J Surg Oncol 71:214\u2013219. doi:10.1002\/(SICI)1096-9098(199908)71:4<214::AID-JSO2>3.0.CO;2-D","journal-title":"J Surg Oncol"},{"key":"5_CR000547","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1002\/humu.10068","volume":"19","author":"C Oliveira","year":"2002","unstructured":"Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C (2002) Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 19:510\u2013517. doi:10.1002\/humu.10068","journal-title":"Hum Mutat"},{"key":"5_CR000548","doi-asserted-by":"publisher","first-page":"2236","DOI":"10.1038\/sj.onc.1207335","volume":"23","author":"C Oliveira","year":"2004","unstructured":"Oliveira C, de Bruin J, Nabais S, Ligtenberg M, Moutinho C, Nagengast FM, Seruca R, van Krieken H, Carneiro F (2004a) Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene 23:2236\u20132240. doi:10.1038\/sj.onc.1207335","journal-title":"Oncogene"},{"key":"5_CR000549","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1016\/j.ejca.2004.04.027","volume":"40","author":"C Oliveira","year":"2004","unstructured":"Oliveira C, Ferreira P, Nabais S, Campos L, Ferreira A, Cirnes L, Alves CC, Veiga I, Fragoso M, Regateiro F, Dias LM, Moreira H, Suriano G, Machado JC, Lopes C, Castedo S, Carneiro F, Seruca R (2004b) E-cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. Eur J Cancer 40:1897\u20131903. doi:10.1016\/j.ejca.2004.04.027","journal-title":"Eur J Cancer"},{"key":"5_CR000550","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, Karam R, Bordeira-Carrico R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmao L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R (2009a) Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136:2137\u20132148. doi:10.1053\/j.gastro.2009.02.065","journal-title":"Gastroenterology"},{"key":"5_CR000551","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1093\/hmg\/ddp046","volume":"18","author":"C Oliveira","year":"2009","unstructured":"Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, Corso G, Schouten J, Fitzgerald R, Vogelsang H, Keller G, Dwerryhouse S, Grimmer D, Chin SF, Yang HK, Jackson CE, Seruca R, Roviello F, Stupka E, Caldas C, Huntsman D (2009b) Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 18:1545\u20131555. doi:10.1093\/hmg\/ddp046","journal-title":"Hum Mol Genet"},{"key":"5_CR000552","first-page":"15","volume":"3","author":"D Palli","year":"1994","unstructured":"Palli D, Galli M, Caporaso NE, Cipriani F, Decarli A, Saieva C, Fraumeni JF Jr, Buiatti E (1994) Family history and risk of stomach cancer in Italy. Cancer Epidemiol Biomarkers Prev 3:15\u201318","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"5_CR000553","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1038\/nrc2131","volume":"7","author":"H Peinado","year":"2007","unstructured":"Peinado H, Olmeda D, Cano A (2007) Snail, Zeb and bHLH factors in tumour progression: an alliance against the epithelial phenotype? Nat Rev Cancer 7:415\u2013428. doi:10.1038\/nrc2131","journal-title":"Nat Rev Cancer"},{"key":"5_CR000554","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1053\/gast.2001.29611","volume":"121","author":"PD Pharoah","year":"2001","unstructured":"Pharoah PD, Guilford P, Caldas C (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348\u20131353. doi:10.1053\/gast.2001.29611","journal-title":"Gastroenterology"},{"key":"5_CR000555","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1093\/hmg\/ddp537","volume":"19","author":"H Pinheiro","year":"2010","unstructured":"Pinheiro H, Bordeira-Carrico R, Seixas S, Carvalho J, Senz J, Oliveira P, Inacio P, Gusmao L, Rocha J, Huntsman D, Seruca R, Oliveira C (2010) Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Hum Mol Genet 19:943\u2013952. doi:10.1093\/hmg\/ddp537","journal-title":"Hum Mol Genet"},{"key":"5_CR000556","doi-asserted-by":"publisher","first-page":"2599","DOI":"10.1093\/hmg\/ddp194","volume":"18","author":"SS Pinho","year":"2009","unstructured":"Pinho SS, Reis CA, Paredes J, Magalhaes AM, Ferreira AC, Figueiredo J, Xiaogang W, Carneiro F, Gartner F, Seruca R (2009) The role of N-acetylglucosaminyltransferase III and V in the post-transcriptional modifications of E-cadherin. Hum Mol Genet 18:2599\u20132608. doi:10.1093\/hmg\/ddp194","journal-title":"Hum Mol Genet"},{"key":"5_CR000557","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1093\/hmg\/8.4.607","volume":"8","author":"FM Richards","year":"1999","unstructured":"Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, McKeown C, Sanders DS, Maher ER (1999) Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 8:607\u2013610. doi:10.1093\/hmg\/8.4.607","journal-title":"Hum Mol Genet"},{"key":"5_CR000558","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1016\/j.ejso.2006.06.006","volume":"32","author":"JC Rodriguez-Sanjuan","year":"2006","unstructured":"Rodriguez-Sanjuan JC, Fontalba A, Mayorga M, Bordin MC, Hyland SJ, Trugeda S, Garcia RA, Gomez-Fleitas M, Fernandez F, Caldas C, Fernandez-Luna JL (2006) A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. Eur J Surg Oncol J Eur Soc Surg Oncol Br Assoc Surg Oncol 32:1110\u20131113. doi:10.1016\/j.ejso.2006.06.006","journal-title":"Eur J Surg Oncol J Eur Soc Surg Oncol Br Assoc Surg Oncol"},{"key":"5_CR000559","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1097\/PAS.0b013e31815e7f1a","volume":"32","author":"WM Rogers","year":"2008","unstructured":"Rogers WM, Dobo E, Norton JA, Van Dam J, Jeffrey RB, Huntsman DG, Kingham K, Chun N, Ford JM, Longacre TA (2008) Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol 32:799\u2013809. doi:10.1097\/PAS.0b013e31815e7f1a","journal-title":"Am J Surg Pathol"},{"key":"5_CR000560","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.ejso.2006.10.028","volume":"33","author":"F Roviello","year":"2007","unstructured":"Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Berardi A, Garosi L, Suriano G, Vindigni C, De Stefano A, Leoncini L, Seruca R, Pinto E (2007) Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol J Eur Soc Surg Oncol Br Assoc Surg Oncol 33:448\u2013451. doi:10.1016\/j.ejso.2006.10.028","journal-title":"Eur J Surg Oncol J Eur Soc Surg Oncol Br Assoc Surg Oncol"},{"key":"5_CR000561","first-page":"439","volume":"8","author":"S Salahshor","year":"2001","unstructured":"Salahshor S, Hou H, Diep CB, Loukola A, Zhang H, Liu T, Chen J, Iselius L, Rubio C, Lothe RA, Aaltonen L, Sun XF, Lindmark G, Lindblom A (2001) A germline E-cadherin mutation in a family with gastric and colon cancer. Int J Mol Med 8:439\u2013443","journal-title":"Int J Mol Med"},{"key":"5_CR000562","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s10689-007-9172-6","volume":"7","author":"KA Schrader","year":"2008","unstructured":"Schrader KA, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, Burke W, Lynch HT, Garber JE, Huntsman DG (2008) Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 7:73\u201382. doi:10.1007\/s10689-007-9172-6","journal-title":"Fam Cancer"},{"key":"5_CR000563","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1136\/jmg.2010.079814","volume":"48","author":"KA Schrader","year":"2011","unstructured":"Schrader KA, Masciari S, Boyd N, Salamanca C, Senz J, Saunders DN, Yorida E, Maines-Bandiera S, Kaurah P, Tung N, Robson ME, Ryan PD, Olopade OI, Domchek SM, Ford J, Isaacs C, Brown P, Balmana J, Razzak AR, Miron P, Coffey K, Terry MB, John EM, Andrulis IL, Knight JA, O\u2019Malley FP, Daly M, Bender P, Moore R, Southey MC, Hopper JL, Garber JE, Huntsman DG (2011) Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet 48:64\u201368. doi:10.1136\/jmg.2010.079814","journal-title":"J Med Genet"},{"key":"5_CR000564","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1111\/j.1399-0004.2011.01744.x","volume":"82","author":"MA Shah","year":"2012","unstructured":"Shah MA, Salo-Mullen E, Stadler Z, Ruggeri JM, Mirander M, Pristyazhnyuk Y, Zhang L (2012) De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. Clin Genet 82:283\u2013287. doi:10.1111\/j.1399-0004.2011.01744.x","journal-title":"Clin Genet"},{"key":"5_CR000565","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1093\/carcin\/20.6.1127","volume":"20","author":"K Shinmura","year":"1999","unstructured":"Shinmura K, Kohno T, Takahashi M, Sasaki A, Ochiai A, Guilford P, Hunter A, Reeve AE, Sugimura H, Yamaguchi N, Yokota J (1999) Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. Carcinogenesis 20:1127\u20131131. doi:10.1093\/carcin\/20.6.1127","journal-title":"Carcinogenesis"},{"key":"5_CR000566","doi-asserted-by":"publisher","first-page":"3566","DOI":"10.1093\/hmg\/ddn249","volume":"17","author":"J Simoes-Correia","year":"2008","unstructured":"Simoes-Correia J, Figueiredo J, Oliveira C, van Hengel J, Seruca R, van Roy F, Suriano G (2008) Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer. Hum Mol Genet 17:3566\u20133576. doi:10.1093\/hmg\/ddn249","journal-title":"Hum Mol Genet"},{"key":"5_CR000567","doi-asserted-by":"publisher","first-page":"e33783","DOI":"10.1371\/journal.pone.0033783","volume":"7","author":"J Simoes-Correia","year":"2012","unstructured":"Simoes-Correia J, Figueiredo J, Lopes R, Stricher F, Oliveira C, Serrano L, Seruca R (2012) E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer. PLoS One 7:e33783. doi:10.1371\/journal.pone.0033783","journal-title":"PLoS One"},{"key":"5_CR000568","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1093\/hmg\/ddg048","volume":"12","author":"G Suriano","year":"2003","unstructured":"Suriano G, Oliveira C, Ferreira P, Machado JC, Bordin MC, De Wever O, Bruyneel EA, Moguilevsky N, Grehan N, Porter TR, Richards FM, Hruban RH, Roviello F, Huntsman D, Mareel M, Carneiro F, Caldas C, Seruca R (2003) Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. Hum Mol Genet 12:575\u2013582. doi:10.1093\/hmg\/ddg048","journal-title":"Hum Mol Genet"},{"key":"5_CR000569","doi-asserted-by":"publisher","first-page":"5401","DOI":"10.1158\/1078-0432.CCR-05-0247","volume":"11","author":"G Suriano","year":"2005","unstructured":"Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, Rao A, Sears D, Jackson CE, Boyd J, Yee C, Deters C, Pai GS, Hammond LS, McGivern BJ, Medgyesy D, Sartz D, Arun B, Oelschlager BK, Upton MP, Neufeld-Kaiser W, Silva OE, Donenberg TR, Kooby DA, Sharma S, Jonsson BA, Gronberg H, Gallinger S, Seruca R, Lynch H, Huntsman DG (2005) Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 11:5401\u20135409. doi:10.1158\/1078-0432.CCR-05-0247","journal-title":"Clin Cancer Res"},{"key":"5_CR000570","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/0092-8674(91)90143-M","volume":"66","author":"K Vleminckx","year":"1991","unstructured":"Vleminckx K, Vakaet L Jr, Mareel M, Fiers W, van Roy F (1991) Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role. Cell 66:107\u2013119. doi:10.1016\/0092-8674(91)90143-M","journal-title":"Cell"},{"key":"5_CR000571","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1093\/jjco\/hyg002","volume":"33","author":"Y Wang","year":"2003","unstructured":"Wang Y, Song JP, Ikeda M, Shinmura K, Yokota J, Sugimura H (2003) Ile-Leu substitution (I415L) in germline E-cadherin gene (CDH1) in Japanese familial gastric cancer. Jpn J Clin Oncol 33:17\u201320. doi:10.1093\/jjco\/hyg002","journal-title":"Jpn J Clin Oncol"},{"key":"5_CR000572","doi-asserted-by":"publisher","first-page":"845821","DOI":"10.4061\/2011\/845821","volume":"2011","author":"R Wilcox","year":"2011","unstructured":"Wilcox R, Perpich M, Noffsinger A, Posner MC, Cooper K (2011) Hereditary diffuse gastric cancer: multidisciplinary case report with review of the literature. Pathol Res Int 2011:845821. doi:10.4061\/2011\/845821","journal-title":"Pathol Res Int"},{"key":"5_CR000573","doi-asserted-by":"publisher","first-page":"3112","DOI":"10.1002\/cncr.25876","volume":"117","author":"ZM Xie","year":"2011","unstructured":"Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, Bignon YJ (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117:3112\u20133117. doi:10.1002\/cncr.25876","journal-title":"Cancer"},{"key":"5_CR000574","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1002\/ijc.10633","volume":"101","author":"T Yabuta","year":"2002","unstructured":"Yabuta T, Shinmura K, Tani M, Yamaguchi S, Yoshimura K, Katai H, Nakajima T, Mochiki E, Tsujinaka T, Takami M, Hirose K, Yamaguchi A, Takenoshita S, Yokota J (2002) E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int J Cancer 101:434\u2013441. doi:10.1002\/ijc.10633","journal-title":"Int J Cancer"},{"key":"5_CR000575","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s100380050137","volume":"44","author":"KA Yoon","year":"1999","unstructured":"Yoon KA, Ku JL, Yang HK, Kim WH, Park SY, Park JG (1999) Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J Hum Genet 44:177\u2013180. doi:10.1007\/s100380050137","journal-title":"J Hum Genet"},{"key":"5_CR000576","doi-asserted-by":"publisher","first-page":"2592","DOI":"10.1002\/ijc.22206","volume":"119","author":"Y Zhang","year":"2006","unstructured":"Zhang Y, Liu X, Fan Y, Ding J, Xu A, Zhou X, Hu X, Zhu M, Zhang X, Li S, Wu J, Cao H, Li J, Wang Y (2006) Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China. Int J Cancer (Journal international du cancer) 119:2592\u20132596. doi:10.1002\/ijc.22206","journal-title":"Int J Cancer (Journal international du cancer)"}],"container-title":["Spotlight on Familial and Hereditary Gastric Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-94-007-6570-2_5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T22:13:20Z","timestamp":1675116800000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-94-007-6570-2_5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"ISBN":["9789400765696","9789400765702"],"references-count":76,"URL":"https:\/\/doi.org\/10.1007\/978-94-007-6570-2_5","relation":{},"subject":[],"published":{"date-parts":[[2013]]},"assertion":[{"value":"4 May 2013","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}