Hereditary Cancer and Genetic Testing

Other medical concerns for people with inherited PTEN mutations

Inherited mutations in PTEN cause PTEN Hamartoma Tumor Syndrome (PHTS). There are two conditions that can be associated with PHTS:

  • Cowden syndrome:
    Some mutations in PTEN cause Cowden syndrome. In addition to an increased risk for cancer, Cowden syndrome is also associated with noncancerous growths. Almost everyone with Cowden syndrome will develop multiple multiple, noncancerous tumor-like growths called hamartomas. These growths are most often found on the skin and the lining of the mouth, nose, intestinal tract and other mucous membranes. Not all people with Cowden will test positive for a PTEN mutation. 
  • Bannayan-Riley-Ruvalcaba syndrome: 
    People with Bannayan-Riley-Ruvalcaba syndrome have large heads (macrocephaly), hamartomas and other noncancerous growths, and may have developmental delays. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to understand these cancer risks.

Because of the high lifetime risk and early onset of medical issues with PTEN mutations, people of reproductive age may wish to speak with a fertility expert prior to having children. There are options using assisted reproduction technology and preimplantation genetic diagnosis for parents to select embryos that are free of an inherited PTEN mutation.