What is a PTEN genetic test?A PTEN genetic test looks for a change, known as a mutation, in a gene called PTEN. Genes are the basic units of heredity passed down from your mother and father.The PTEN gene helps stop the growth of tumors. It's known as a tumor suppressor. A tumor suppressor gene is like the brakes on a car. It puts the "brakes" on cells, so they don't divide too quickly. If you have a PTEN genetic mutation, it can cause the growth of noncancerous tumors called hamartomas. Hamartomas can show up throughout the body. The mutation can also lead to the development of cancerous tumors.A PTEN genetic mutation can be inherited from your parents, or acquired later in life from the environment or from a mistake that happens in your body during cell division.An inherited PTEN mutation can cause a variety of health disorders. Some of these can start at infancy or early childhood. Others show up in adulthood. These disorders are often grouped together and called PTEN hamartoma syndrome (PTHS) and include:Cowden syndrome, a disorder that causes the growth of many hamartomas and increases the risk of several types of cancer, including cancers of the breast, uterus, thyroid, and colon. People with Cowden syndrome often have a larger than normal sized head (macrocephaly), developmental delays, and/or autism.Bannayan-Riley-Ruvalcaba syndrome also causes hamartomas and macrocephaly. In addition, people with this syndrome may have learning disabilities and/or autism. Males with the disorder often have dark freckles on the penis.Proteus or Proteus-like syndrome can cause an overgrowth of bones, skin, and other tissues, as well as hamartomas and macrocephaly.Acquired (also known as somatic) PTEN genetic mutations are one of the commonly found mutations in human cancer. These mutations have been found in many different types of cancer, including prostate cancer, uterine cancer, and some types of brain tumors.Other names: PTEN gene, full gene analysis; PTEN sequencing and deletion/duplication
