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Molecular pathology of familial gastric cancer
  1. Fatima Carneiro (fcarneiro{at}ipatimup.pt)
  1. IPATIMUP, Portugal
    1. Carla Oliveira (carlaol{at}ipatimup.pt)
    1. IPATIMUP, Portugal
      1. Gianpaolo Suriano (gsuriano{at}ipatimup.pt)
      1. IPATIMUP, Portugal
        1. Raquel Seruca (rseruca{at}ipatimup.pt)
        1. IPATIMUP, Portugal

          Abstract

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

          • CDH1 germline mutations
          • E-cadherin
          • carcinoma in situ
          • familial gastric cancer
          • hereditary gastric cancer

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