Hereditary diffuse gastric cancer (HDGC), an inherited cancer disorder that increases the risk for stomach cancer Lobular breast cancer, breast cancer that begins in the milk-producing glands of the breastOvarian cancerProstate cancerColon cancerBlepharocheilodontic syndrome, a disorder that causes birth abnormalities such as a cleft lip, cleft palate, or both
E-cadherin has many important roles, including binding cells together, controlling cell movement and development, helping transmit chemical signals within cells, and regulating the activity of specific genes. Additionally, E-cadherin acts as a tumor suppressor, which means it stops cells from growing uncontrollably or dividing too quickly. (1) Your doctor may recommend genetic testing for the CDH1 mutation if you have relatives with a documented CDH1 genetic mutation; you or other family members develop any cancers associated with the CDH1 genetic disorder; or if you have other risk factors. Genetic testing for CDH1 usually involves providing a blood sample for analysis in a lab. You may want to talk to a genetic counselor who can help you evaluate your family history, tell you the pros and cons of the test, and help you understand your results. (2) People with CDH1 mutations that are associated with HDGC have between a 56 and 70 percent chance of developing stomach cancer in their lifetime. Women with CDH1 abnormalities have a 40 to 60 percent chance of having lobular breast cancer. (1,3) If you have a CDH1 mutation, you have a 50 percent chance of passing it on to each of your children. (2) Interestingly, historians believe Napoleon Bonaparte’s family carried the CDH1 mutation. (2,4) For some people, an endoscopy procedure or biopsy to look for stomach cancer might start in the teen years. Women may need to begin yearly mammograms and MRIs earlier than usually recommended, and men and women may want to have annual colonoscopies at younger ages. Screening methods may not always spot stomach cancer. Talk to your doctor about all your screening and prevention options. (5)
