BACKGROUND Hereditary diffuse gastric carcinoma is an autosomal dominant cancer syndrome associated with mutations of the E-cadherin gene (CDH1). E-cadherin is normally involved in cell-cell adhesion, so it not surprising that individuals with this syndrome are predisposed to develop malignancies with dyshesive morphologies at a young age, such as diffuse (signet ring cell) gastric carcinoma an...

H ereditary diffuse gastric cancer (MIM#137215) is an autosomal dominant disease in which gastric cancer develops at a young age. The first report in the medical literature describing familial clustering of gastric cancer was that of Aldred Warthin in 1913, although this family (‘‘family G’’) was subsequently shown to have hereditary non-polyposis colorectal cancer (HNPCC). Further reports of f...

Although the incidence of gastric cancer is decreasing, there were still 159 900 new cases in Europe in 2006, and 118 200 deaths, representing the fifth highest incidence and fourth highest cause of cancer-related death. The peak incidence is in the seventh decade, and the male:female ratio exceeds 1.5. There is marked geographic variation. Risks include male gender, cigarette smoking, Helicoba...

Gastric adenocarcinoma is one of the most frequent and deadly cancers worldwide. However, its incidence variable, being higher in eastern countries where screening general population recommended. On other hand, low to intermediate-risk countries, may not be cost-effective, therefore, it necessary aware high-risk populations that benefit from adequate surveillance. It always easy identify these ...

Cancer cells exhibit two opposing methylation abnormalities: genome-wide hypomethylation and gene promoter hypermethylation. Downregulation of E-cadherin (CDH1) plays a key role in the development of diffuse-type gastric cancer, and DNA methylation is a major cause of the gene’s silencing. Hereditary diffuse gastric cancer is caused by germline mutation of CDH1 gene, and DNA methylation frequen...

Hereditary diffuse gastric cancer is a rare, autosomal dominant hereditary cancer syndrome associated with germline mutations in CDH1 in which 60% 80% of affected individuals develop advanced diffuse gastric cancer, many as young adults. At clinical presentation, ~90% of these malignancies represent advanced, surgically incurable disease. As such, pre-symptomatic identification of germline CDH1...

The main goal at a High-Risk Gastrointestinal Cancer Clinic is to identify individuals at increased risk of developing tumors for diagnosis them in presymptomatic stages, when they are potentially curable. We report an asymptomatic patient belonging to a family with hereditary diffuse gastric cancer syndrome with a novel pathogenic mutation in the E-cadherin gene. In the absence of any proven d...