Genetics, pathology, and clinics of familial gastric cancer

Abstract

Gastric cancer is relatively common worldwide, mainly in its sporadic form, but familial aggregation of the disease may be seen in approximately 10% of the cases. This suggests a genetic cause for the cancer in those families that has not been identified in most cases. Despite all efforts to determine its genetic basis, a single syndrome has been characterized-the hereditary diffuse gastric cancer (HDGC)-which is specifically associated with CDH1 (E-cadherin) germline mutations in one third of the families. The other two thirds and all the gastric cancer families not fulfilling the HDGC criteria remain without molecular diagnosis. In this article we review the state of the art of familial gastric cancer regarding the molecular aspects, the clinical criteria, the pathology features, and the management recommendations described so far to be associated with this cancer disease.