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E-cadherinis not frequently mutated in hereditary gastric cancer
  1. EGLE AVIZIENYTE*,
  2. VIRPI LAUNONEN*,
  3. REIJO SALOVAARA,
  4. TUULA KIVILUOTO,
  5. LAURI A AALTONEN*
  1. *Department of Medical Genetics, Haartman Institute, PO Box 21, FIN-00014 University of Helsinki, Finland
  2. †Department of Pathology, Haartman Institute, PO Box 21, FIN–00014 University of Helsinki, Finland
  3. ‡Second Department of Surgery, FIN-00029 HUCH, Helsinki University Central Hospital, Helsinki, Finland
  1. Dr Aaltonen, lauri.aaltonen{at}helsinki.fi

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Editor—Inherited mutations in theE-cadherin gene (CDH1) were first described in three Maori kindreds with early onset, diffuse, familial gastric cancer.1 More recently, this finding has been confirmed in other populations2-7 and this dominantly inherited familial cancer syndrome has been designated a hereditary diffuse gastric cancer (HDGC).4 So far, no germline mutations have been identified in site specific intestinal type gastric cancer. Based on the guidelines of the First Workshop of the International Gastric Cancer Linkage Consortium (IGCLC), the following criteria were introduced: (1) two or more documented cases of diffuse gastric cancer in first/second degree relatives, with at least one diagnosed before the age of 50 or (2) three or more cases of documented diffuse gastric cancer in first/second degree relatives, independently of age of onset. In addition, criteria for familial intestinal gastric cancer (FIGC) were defined.8

In the present study, we analysed 11 Finnish gastric cancer patients with a family history of disease and two sporadic cases with germlineE-cadherin gene mutations (table 1, fig 1). None of these families completely fulfilled the criteria for other inherited cancer syndromes with predisposition to gastric cancer, for example, hereditary non-polyposis colorectal syndrome (HNPCC), familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, or Li-Fraumeni syndrome (LFS).8 ,9 Five of the families studied fulfilled the criteria for HDGC syndrome (table 1, fig 1, Nos 1-3, 5, and 10) and five families included two or more cases of gastric cancer (one of which was confirmed to be of diffuse type) (table 1, fig1, Nos 4, 6, 9, 11, and 12). Family 13 included four intestinal type gastric cancer cases and therefore seems to belong to FIGC. However, one of the patients in this family had diffuse type carcinoma. In addition to …

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