You can inherit a PTEN mutation from one of your parents or acquire one later on in life.
Cowden Syndrome This disorder causes hamartomas and increases your chances of developing a number of cancers, including breast cancer, thyroid cancer, uterine cancer, and colon cancer. People with Cowden syndrome might have larger-than-normal heads (macrocephaly) and experience developmental delays, such as autism.Bannayan-Riley-Ruvalcaba Syndrome This can cause hamartomas, macrocephaly, learning disabilities, and autism. Other signs and symptoms of this syndrome include weak muscle tone, scoliosis, seizures, and thyroid problems.Proteus or Proteus-Like Syndrome In addition to causing hamartomas and macrocephaly, this condition can lead to an overgrowth of bones, skin, and other tissues.
Acquired, or “somatic,” PTEN mutations are common in many types of cancers, including: (1)
Prostate cancerUterine cancerBrain tumors
Because PTEN mutations are among the most common seen in human cancers, they can play a role in many other cancers as well. This isn’t a routine test, and it’s usually only given to certain children or adults who have a family history, specific symptoms, or are otherwise thought to be at high risk of having the mutation. (1) Your doctor might recommend genetic testing if you or your child have one or more of the following: (1)
A family history of a PTEN mutationSeveral hamartomas, especially in the gut areaMacrocephalyDevelopmental delaysAutismDark freckles on the penisBreast cancerThyroid cancerUterine cancer
Since PTEN was discovered, researchers have learned it’s one of the most frequently mutated tumor suppressors found in cancer. (5) You’ll probably need more frequent cancer screenings than someone without the mutation. If you have a PTEN mutation, your healthcare provider might recommend the following: (1)
Colonoscopies starting at age 35–40Monthly breast self-examsMammograms starting at age 30Yearly uterine screeningsYearly thyroid screeningsYearly kidney screeningsYearly skin exams
