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Cowden Syndrome

Cowden Syndrome - Symptoms

The common cancers in individuals with a faulty PTEN gene

  • Breast Cancer
  • Thyroid cancer
  • Uterine cancer
  • Kidney cancer
  • Colon cancer
  • Melanoma

Lifetime cancer risks for individuals carrying a faulty PTEN gene
Cancer type PTEN carriers General population risk
Breast (female)40 - 60%13%
Thyroid6 - 38%1%
Uterine (endometrial)19 - 28%3%
Renal (kidney)2 - 24%2%
Colon9 - 32%4%
Melanoma (skin)5%2%

Note: The cancers associated with a faulty PTEN gene and their risk estimates may change as more information is available.

Other non-cancer features associated with CS include:

  • A large head size (macrocephaly)
  • Benign tumours of the thyroid, breast and endometrium
  • Bumps/growths on the skin (trichilemmomas) or in the mouth (papillomatosis)
  • Polyps (growths) in the colon or intestines
  • Autism
  • Developmental delay
  • Blood vessel malformations or haemangiomas (strawberry marks)
  • Benign tumours (lipomas) commonly found on the upper back and shoulders

Cowden Syndrome - How to prevent?

Cowden Syndrome - Preparing for surgery

Cowden Syndrome - Post-surgery care