CDH1 gene encodes for a protein called cadherin-1 or E-cadherin. E-cadherin is a member of the cadherin family of proteins, which is found on the surface of cells that help neighboring cells adhere to each other and form organized tissues. E-cadherin is a specific calcium ion-dependent cell adhesion molecule that is involved in transmitting chemical signals within cells, controlling cellular movement, and regulating the activity of certain genes. E-cadherin is also a tumor suppressor gene that prevents cells from growing and dividing in an uncontrolled way to form cancerous cells.
Mutations in this gene have been identified in different types of cancers, such as hereditary diffuse gastric cancer, endometrial cancer, and ovarian cancer. In addition, women who have mutations in the CDH1 gene have a high risk of developing breast cancer in the milk-producing glands (lobular breast cancer). Studies have also shown that cancer patients with CDH1 hypermethylation have higher survival rate than those without hypermethylation.