

Familial gastric cancer comprises at least three major syndromes: hereditary diffuse gastric cancer, gastric adenocarcinoma and proximal polyposis of the stomach, and familial intestinal gastric cancer. The risk of development of gastric cancer is high in families affected b-y these syndromes, but only hereditary diffuse gastric cancer is genetically explained (caused by germline alterations of CDH1, which encodes E-cadherin). Gastric cancer is also associated with a range of several cancer-associated syndromes with known genetic causes, such as Lynch, Li-Fraumeni, Peutz-Jeghers, hereditary breast-ovarian cancer syndromes, familial adenomatous polyposis, and juvenile polyposis. We present contemporary knowledge on the genetics, pathogenesis, and clinical features of familial gastric cancer, and discuss research and technological developments, which together are expected to open avenues for new genetic testing approaches and novel therapeutic strategies. © 2015 Elsevier Ltd.
| EMTREE drug terms: | uvomorulin |
|---|---|
| EMTREE medical terms: | cancer diagnosiscancer epidemiologycarcinogenesisCDH1 geneexperimental modelfamilial cancerfamilial intestinal gastric cancergastrectomygastric adenocarcinoma and proximal polyposis of the stomachgenegenetic associationgenetic screeninggenetic susceptibilitygenotype phenotype correlationhereditary diffuse gastric cancerheterozygotehistologyhumanmissense mutationnonhumanpathogenicityReviewsomatic mutationstomach cancergenetic predispositiongeneticspathologyStomach Neoplasms |
| MeSH: | Genetic Predisposition to DiseaseHumansStomach Neoplasms |
uvomorulin, 112956-45-3
| Funding sponsor | Funding number | Acronym |
|---|---|---|
| Programa Operacional Temático Factores de Competitividade | COMPETE | |
| FCT PTDC/SAU-GMG/110785/2009,SFRH/BPD/79499/2011,SFRH/BPD/87705/2012 |
We searched PubMed with the terms “hereditary diffuse gastric cancer (HDGC)”, “early onset gastric cancer”, “familial gastric cancer”, “gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)”, and “E-cadherin germline mutations” for articles in English published between Jan 1, 1998, and 30 June, 2014. We also searched our files, particularly for papers about gastric-cancer-associated syndromes and the pathology of HDGC. We generated the final reference list on the basis of originality and relevance to the broad scope of this Review. Contributors FC and CO contributed to the conceptual design, supervision, and preparation of the Review. CO, HP, JF, RS, and FC analysed and interpreted data. HP compiled all relevant references and tabulated data. All authors drafted the paper and read, commented on, and approved the final version before submission. Declaration of interests We declare that we have no competing interests. Acknowledgments We thank the Portuguese Foundation for Science and Technology (FCT), the Programa Operacional Temático Factores de Competitividade (COMPETE), and fundo Comunitário Europeu FEDER for funding the grant (FCT PTDC/SAU-GMG/110785/2009), and postdoctoral fellowships for HP (SFRH/BPD/79499/2011) and JF (SFRH/BPD/87705/2012). We also thank Mafalda Nobre for the design of the figures.
Carneiro, F.; Institute of Molecular Pathology and Immunology, University of Porto, Rua Dr Roberto Frias s/n, Porto, Portugal
© Copyright 2015 Elsevier B.V., All rights reserved.