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Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
  1. F Carneiro1,2,3,
  2. C Oliveira1,2,
  3. G Suriano1,2,
  4. R Seruca1,2
  1. 1
    Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
  2. 2
    Medical Faculty of the University of Porto, Porto, Portugal
  3. 3
    Department of Pathology, Hospital S. João, Porto, Portugal
  1. Dr Fátima Carneiro, Rua Dr Roberto frias s/n, 4200-465 Porto, Portugal; fcarneiro{at}


Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1–3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.

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  • Fátima Carneiro, Carla Oliveira and Raquel Seruca are members of the International Gastric Cancer Linkage Consortium (IGCLC).

  • Funding: The work reported here from the IPATIMUP team was partly funded by the Sixth Framework Programme from EU-FP6 (LSHC-CT-2005-018754) and the Portuguese Science Foundation (POCTI/SAU-OBS/58111/2004).

  • Competing interests: None declared.