Thinking about cancer or dealing with cancer risk can be scary or overwhelming, but we believe that receiving information and resources is comforting, empowering, and lifesaving.
Inherited mutations in the PTEN gene are associated with a cluster of diseases known collectively as
PTEN hamartoma tumor syndrome. One of these, Cowden syndrome, is known to greatly increase the risk for certain cancers, including:
breast cancer (up to 50% lifetime risk in women)
uterine cancer (up to 28% lifetime risk)
thyroid cancer (up to 10% lifetime risk)
colon cancer (up to 9% lifetime risk)
kidney cancer (up to 5% lifetime risk)
melanoma (increased risk)
Cowden syndrome is also associated with benign (noncancerous) tumors in the thyroid (goiter), uterus (fibroids), and gastrointestinal tract (polyps). There can also be an excess of autism and autism-like features in PTEN families.
National guidelines for managing cancer risk in people with
PTEN mutations recommend:
A genetics expert can look at your personal and family medical history and see if it is consistent with
Cowden syndrome and order testing if appropriate.