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E-Cadherin Protein

The CDH1 gene, located on chromosome 16, normally encodes for a protein called E-cadherin. The normal function of E-cadherin is to allow cells and tissues to adhere to one another.

When there is a mutation in the CDH1 gene, the function of the E-cadherin protein is disrupted, and cancer often results. The exact mechanism by which the CDH1 gene mutation ultimately causes gastric cancer is not entirely known.

Inheritance of the CDH1 gene mutation follows an autosomal dominant pattern, meaning that offspring of mutation carriers have a 50% chance of inheriting the mutant gene. It is estimated that up to three out of every four CDH1 gene mutation carriers will go on to develop gastric cancer.

It is important to note, however, that not all HDGC families have a mutation in the CDH1 gene. Other genes that may lead to HDGC (Hereditary Diffuse Gastric Cancer) are currently being studied.

Learn more about HDGC      Learn about HDGC in families

 

Genetic Testing

Families with a history of stomach cancer may qualify for diagnostic or predictive testing. Learn more on HDGC in families and the criteria for genetic testing. Read about DNA banking and why it’s important.

Find a Genetic Counselor

For assistance in locating a genetic counseling services in the US and Canada, you can search the National Society of Genetic Counselors database.


Genetic Non-Discrimination The Genetic Information Non-Discrimination Act of 2008 (GINA), offers protection to employees from discrimination based upon genetic information. Title I: Genetic Nondiscrimination in Health Insurance Title II: Prohibiting Employment Discrimination on the Basis of Genetic information Title III:...

DNA Banking DNA banking is the process of obtaining DNA for long-term storage. A DNA sample can be extracted from a number of different sources in the body, including blood and saliva. Once the DNA is collected, it is then frozen for future use. The freezing process preserves the DNA and prevents it from...

CDH1 Mutations Our bodies are made up of trillions of tiny cells. We have skin cells, muscle cells, bone cells, stomach cells, etc. Each cell contains a copy of our genetic code. This genetic code is made up of DNA and is packaged into structures called chromosomes. Although our DNA is extremely important, it is...

Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. The New England Journal of Medicine. June 2001;344(25):1904-1909.

Francis WP, Rodrigues DM, Perez NE, Lonardo F, Weaver D, Webber JD. Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. Journal of the Society of Laparoendoscopic Surgeons. 2007;11:142-147.

Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, et al. Familial gastric cancer: overview and guidelines for management. Journal of Medical Genetics. 1999;36:873-880.

Kaurah P, MacMillan A,Boyd N, Senz J, De Luca A, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. Journal of the American Medical Association. 2007;297(21):2360-2372.

Vogelaar IP, van der Post RS, Carneiro F, Guilford P, Huntsman D, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;00:1-14.