A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN. Changes in your genes are also called gene variants or mutations.
Genes are parts of DNA in your cells that you inherit from your parents. Genes carry information that controls what you look like and how your body works.
PTEN is a type of gene called a "tumor suppressor." Tumor suppressor genes provide instructions for making proteins that control how fast your cells grow and divide to make new cells. The proteins also help stop the growth of abnormal cells.
If you have changes in your PTEN gene, the gene or the protein it makes may not work well or may stop working completely. This can lead to serious health problems, including cancer. Changes in your PTEN gene can be acquired or inherited.
Acquired changes in your genes develop at some time after you're born. Acquired changes in the PTEN gene are commonly found in many different types of cancer, including prostate cancer, uterine cancer, and some types of brain tumors. Acquired changes in your PTEN gene:
- Can happen if your cells make a mistake when they divide to make new cells
- Can happen if you're exposed to substances that cause cancer
- Show up only in certain types of cells
- Usually aren't in sperm or egg cells, so they can't be passed down to children
Inherited changes in your genes are changes that you're born with. They show up in all the cells in your body, including your egg or sperm cells. That means they can be passed down to your children.
Inherited changes in the PTEN gene aren't common. But when they happen, they can cause several types of disorders. These disorders all include the growth of benign tumors (not cancer). These tumors are called hamartomas. The disorders are grouped together and called PTEN hamartoma tumor syndrome (PHTS). Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are two types of PHTS disorders.
Hamartomas and other symptoms of PHTS can show up in infancy or later. PHTS increases your risk for certain types of cancer, but the cancer usually doesn't develop until adulthood.