{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:23:28Z","timestamp":1760783008585,"version":"3.40.4"},"reference-count":25,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncology"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Objectives:<\/i> Only 1% of diffuse gastric cancers occur in families with autosomal dominant gastric cancer susceptibility. Germline mutations in the E-cadherin gene account for the hereditary diffuse gastric cancer (HDGC) syndrome. We studied a large cohort of gastric cancer patients from Tuscany, a region in Italy, to evaluate the presence of familial clustering of gastric cancer. <i>Methods:<\/i> 238 pedigrees were retrospectively studied by structured interviews. All probands with diagnosed gastric cancer were contacted in-person or by phone and tumor types were assessed in first- and second-degree relatives. Familial aggregation was investigated in order to search for families with suspected HDGC. <i>Results:<\/i> Familial aggregation for gastric cancer was observed in 79 of 238 cases (33.2%). Among these, there were 64 families (81%) with one gastric cancer other than the proband, 10 families with two gastric cancers (12.7%) and 5 families with three gastric cancers (6.3%). Fourteen families fulfilled the HDGC clinical criteria, one of them presenting with a pathogenic germline mutation in the E-cadherin gene (7.1%). <i>Conclusions:<\/i> The prevalence of familial HDGC appears extremely high. Since only one pathogenic germline mutation was noted in a family fulfilling the HDGC clinical criteria, factors other than E-cadherin gene mutations may contribute to the familial clustering of HDGC.<\/jats:p>","DOI":"10.1159\/000113015","type":"journal-article","created":{"date-parts":[[2008,1,11]],"date-time":"2008-01-11T14:33:25Z","timestamp":1200062005000},"page":"243-247","source":"Crossref","is-referenced-by-count":22,"title":["High Incidence of Familial Gastric Cancer in Tuscany, a Region in Italy"],"prefix":"10.1159","volume":"72","author":[{"given":"Franco","family":"Roviello","sequence":"first","affiliation":[]},{"given":"Giovanni","family":"Corso","sequence":"additional","affiliation":[]},{"given":"Corrado","family":"Pedrazzani","sequence":"additional","affiliation":[]},{"given":"Daniele","family":"Marrelli","sequence":"additional","affiliation":[]},{"given":"Giulia","family":"De Falco","sequence":"additional","affiliation":[]},{"given":"Gianpaolo","family":"Suriano","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Vindigni","sequence":"additional","affiliation":[]},{"given":"Anna","family":"Berardi","sequence":"additional","affiliation":[]},{"given":"Lorenzo","family":"Garosi","sequence":"additional","affiliation":[]},{"given":"Alfonso","family":"De Stefano","sequence":"additional","affiliation":[]},{"given":"Lorenzo","family":"Leoncini","sequence":"additional","affiliation":[]},{"given":"Raquel","family":"Seruca","sequence":"additional","affiliation":[]},{"given":"Enrico","family":"Pinto","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2008,1,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3322%2Fcanjclin.55.2.74"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0959-8049%2801%2900350-1"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fijc.10649"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fijc.10659"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1053%2Fgast.2002.35957"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2FS0016-5085%2803%2900157-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1572-0241.2005.50084.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.018275"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2F0955-0674%2893%2990029-P"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2F32918"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.surg.2007.06.006"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejso.2006.10.028"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10120-005-0350-7"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2F1097-0142%2819920701%2970%3A1%3C50%3A%3AAID-CNCR2820700109%3E3.0.CO%3B2-I"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2Fijc.1294"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2801%2906524-2"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1572-0241.1999.01360.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093%2Fjnci%2Fdjj071"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2FS0016-5085%2803%2900899-0"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.gastro.2003.08.042"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1206672"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1177%2F106689690601400105"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1136%2Fgut.47.2.262"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093%2Fjjco%2Fhyg002"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002%2Fijc.22206"}],"container-title":["Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/113015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/113015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:34:55Z","timestamp":1745462095000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000113015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":25,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2008,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000113015","archive":["Portico"],"relation":{},"ISSN":["0030-2414","1423-0232"],"issn-type":[{"type":"print","value":"0030-2414"},{"type":"electronic","value":"1423-0232"}],"subject":[],"published":{"date-parts":[[2007]]}}}