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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 .
Linitis plastica (sometimes referred to as leather bottle stomach) is a morphological variant of diffuse stomach cancer in which the stomach wall becomes thick and rigid. [ 1 ] Linitis plastica is a type of adenocarcinoma and accounts for 3–19% of gastric adenocarcinomas. [ 1 ]
Among men, 683 754 cases were diagnosed, accounting for 7.2% of all cancer cases, and among women, stomach cancer was diagnosed in 349 947 cases, accounting for 4.1% of all cancer cases. [96] In 2012, stomach cancer was the fifth most-common cancer with 952,000 cases diagnosed. [16] It is more common both in men and in developing countries.
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]
There are many terms used to describe "APC-associated polyposis condition" including FAP, attenuated FAP, Gardner syndrome, Turcot syndrome, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). There is a movement toward no longer using the terms Gardner Syndrome or Turcot Syndrome since both are part of the FAP spectrum.
Gastrointestinal cancer refers to malignant conditions of the gastrointestinal tract (GI tract) and accessory organs of digestion, including the esophagus, stomach, biliary system, pancreas, small intestine, large intestine, rectum and anus. The symptoms relate to the organ affected and can include obstruction (leading to difficulty swallowing ...
The majority of GISTs present at ages 50–70 years. Across most of the age spectrum, the incidence of GIST is similar in men and women. [33]: 1122 Adult GISTs are rare before age 40. Pediatric GISTs are considered to be biologically distinct. [46] Unlike GISTs at other ages, pediatric GISTs are more common in girls and young women.
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. [67]