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Hereditary diffuse gastric cancer (HDGC) is an inherited genetic syndrome most often caused by an inactivating mutation in the E-cadherin gene (CDH1) located on chromosome 16. [1] Individuals who inherit an inactive copy of the CDH1 gene are at significantly elevated risk for developing stomach cancer .
About 10% of cases run in families, and between 1 and 3% of cases are due to genetic syndromes inherited such as hereditary diffuse gastric cancer. [2] A genetic risk factor for gastric cancer is a genetic defect of the CDH1 gene known as hereditary diffuse gastric cancer (HDGC). The CDH1 gene, which codes for E-cadherin, lies on the 16th ...
Inherited inactivating mutations in CDH1 are associated with hereditary diffuse gastric cancer. Individuals with this condition have up to a 70% lifetime risk of developing diffuse gastric carcinoma, and females with CDH1 mutations have up to a 60% lifetime risk of developing lobular breast cancer.
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
Primary gastric lymphoma (lymphoma that originates in the stomach itself) [1] is an uncommon condition, accounting for less than 15% of gastric malignancies and about 2% of all lymphomas. However, the stomach is a very common extranodal site for lymphomas (lymphomas originate elsewhere and metastasise to the stomach). [ 2 ]
Another common condition is gastric ulceration, peptic ulcers. Ulceration erodes the gastric mucosa, which protects the tissue of the stomach from the stomach acids. Peptic ulcers are most commonly caused by a bacterial Helicobacter pylori infection. [5] Epstein–Barr virus infection is another factor to induce gastric cancer. [6] [7]
The diagnosis is also suspected in patients who have severe and recurrent [6] ulceration of the stomach and small bowel, especially if they fail to respond to treatment. [7] Chronic diarrhea, including steatorrhea (fatty stools) Pain in the esophagus, especially between and after meals at night; Nausea; Wheezing; Vomiting blood; Malnourishment ...
Under 100 (0–470, typ. 30), sometimes flat rather than polypoid morphology, and more proximal to the splenic flexure. In a study of 120 individuals 37% (N=44) had <10 polyps; 3 of these 44 had colorectal cancer. [14] Gastric fundic polyps and duodenal adenomas are also seen.