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Clinical data of GC cases and surgical and histological data of prophylactic gastrectomies and mastectomies of all 10 Dutch <jats:italic>CDH1<\/jats:italic> mutation families were collected. <jats:italic>In vitro<\/jats:italic> functional assays were performed to analyze the nature of the newly found missense mutation c.1748T&gt;G (p.Leu583Arg). Ten different <jats:italic>CDH1<\/jats:italic> mutations were found. Functional assays gave strong arguments for the pathogenic nature of the p.Leu583Arg mutation. The pedigrees comprised 36 GC cases (mean age 40 years, range 20\u201372 years) and one LBC case. Twenty\u2010nine\/37 carriers alive, aged 18\u201361 years, underwent prophylactic gastrectomy. Invasive GC\u2010foci and premalignant abnormalities were detected in 2 and 25 patients, respectively. In four patients GC\/signetring cell (SRC) foci were diagnosed at preoperative gastroscopy. Long\u2010standing presence of SRCs without progression to invasive carcinoma was shown in two others. Multifocal LBC\/LCIS was found in the two prophylactic mastectomy specimens. Clefts of lip and\/or palate (CL\/P) were reported in seven individuals from three families. The age at onset and aggressiveness of GC is highly variable, which has to be included in counseling on planning prophylactic gastrectomies. The incidence of LBC is expected to increase and prophylactic mastectomy needs to be considered. The relationship between CL\/P and <jats:italic>CDH1<\/jats:italic> needs further study to inform future parents from hereditary diffuse gastric cancer (HDGC) families adequately.<\/jats:p>","DOI":"10.1002\/ijc.26398","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T01:24:54Z","timestamp":1314840294000},"page":"367-376","source":"Crossref","is-referenced-by-count":113,"title":["<i>CDH1<\/i>\u2010related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling"],"prefix":"10.1002","volume":"131","author":[{"given":"Irma","family":"Kluijt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester J.M.","family":"Siemerink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet G.E.M.","family":"Ausems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo A.M.","family":"van Os","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"de Jong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Sim\u00f5es\u2010Correia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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