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Hereditary diffuse gastric cancer

From SNPedia

Hereditary diffuse gastric cancer (HDGC) is an dominantly inherited, rare disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.GHR

In HDGC, gastric cancer usually occurs in a person's late thirties or early forties, although it can develop anytime during adulthood. Although stomach cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year, HDGC accounts for less than 1 percent of these cases. About 20 - 40% of HDGC cases are due to a mutation in the CDH1 gene; other genes involved are mostly unknown at this time (except perhaps for CTNNA1). The odds of developing gastric cancer for among CDH1 mutation carriers is about 56% for women and 70% for men.GHR

Due to such high risk, people with a pathogenic CDH1 mutation may choose to have a total gastrectomy, a surgery removing the stomach that can now be performed in a minimally invasive manner.

See CDH1 for a list of known HDGC mutations.