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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

PTEN (PTEN hamartoma tumor syndrome and Cowden syndrome)

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:

heightened screening for breast cancer in women beginning at age 30-35 or earlier based on family history
discussing the option of risk-reducing mastectomy (removal of breast tissue)
thyroid ultrasound for men and women
colonoscopy every 5 years beginning at age 35 

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.


updated 04/09/15

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