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.