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Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer

¹ Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
² Medical Faculty of the University of Porto, Porto, Portugal
³ Department of Pathology, Hospital S. João, Porto, Portugal

Correspondence to:
Dr Fátima Carneiro, Rua Dr Roberto frias s/n, 4200-465 Porto, Portugal; fcarneiro{at}ipatimup.pt

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.