While I sit here watching tv, I wanted to write a quick blog post talking about Pten gene. When it comes to breast cancer and having a high risk, many people have heard of BRCA1 or BRCA2. This Friday, I will be having a mastectomy because I have a gene mutation in my Pten gene that gives me a 85% risk of developing invasive breast cancer. I do have breast cancer in both of my breasts but it’s not invasive so it just seemed like the perfect time to be productive with my health.
What is PTEN?
PTEN is one of the body’s many tumor suppressor genes. When they work properly, tumor suppressor genes help to control cell growth. When they are not functioning properly, cells can grow out of control and turn into either benign or malignant tumors. Many people with Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, and a few other genetic conditions have been found to have PTEN gene mutations as the cause of their medical concerns. These conditions as a group are referred to as PTEN Hamartoma Tumor Syndrome (PHTS). Dr. Charis Eng, our medical director and chairman of the Cleveland Clinic Genomic Medicine Institute, led the research team which in 1997 discovered the causative relationship between the PTEN gene and Cowden syndrome.