by Johanna Chelcun, MHS, PA-C
Scientific Background
The role of the E-cadherin protein affected by CDH1 gene mutations is adhesion of adjacent cells in certain tissues of the body. In patients with a CDH1 gene mutation, the loss of E-cadherin is thought to lead to invasive tumors, most often in the lining of the stomach. However, a form of breast cancer called lobular breast cancer has also been associated with the CDH1 gene mutation and hereditary diffuse gastric cancer.
Lobular breast cancer caused by CDH1 mutations cause cancerous cells to be scattered throughout the breast tissue, making the cancer difficult to diagnose (much like hereditary diffuse gastric cancer). Additionally, the same type of cancer cells, called signet ring cells, are found in both lobular breast cancer and diffuse gastric cancers. This helps to solidify a relationship between the CDH1 gene mutation and an increased risk of both diffuse gastric cancer and lobular breast cancer. To date, lobular breast cancer is the only cancer besides gastric that is known to occur at increased rates in families affected by a CDH1 gene mutation. Read the rest of this entry »
