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High Incidence of Familial Gastric Cancer in Tuscany, a Region in ItalyRoviello F.a, b · Corso G.a, b · Pedrazzani C.a, b · Marrelli D.a, b · De Falco G.a, c · Suriano G.d · Vindigni C.a · Berardi A.a, b · Garosi L.a, b · De Stefano A.a, b · Leoncini L.a · Seruca R.d · Pinto E.a, b
aDepartment of Human Pathology and Oncology, bDivision of Surgical Oncology, University of Siena, Siena, Italy; cCollege of Science and Technology, Sbarro Institute for Cancer Research and Molecular Medicine, Temple University, Philadelphia, Pa., USA; dInstitute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
Objectives: 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. Methods: 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. Results: 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%). Conclusions: 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.
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