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About Cowden Syndrome

A variant in the PTEN gene affects the growth and function of a cell. Individuals with Cowden syndrome are at an increased risk for developing breast cancer, colorectal cancer, endometrial cancer as well as benign (noncancerous) breast, gastrointestinal, skin, thyroid, and uterine lesions. Pathogenic variants in PTEN can also lead to multiple hamartomatous polyps (clumps of cells) in the stomach, small intestine, and colon.

Cancer risks associated with Cowden syndrome include:

Cancer Screening and Risk Reduction for Cowden Syndrome

Understanding your risk for developing cancer as well as the options available to you for prevention, early detection, and treatment can help improve your quality of life. Clinical management guidelines for surveillance and risk-reduction strategies differ from person to person and should involve a shared decision between you and your healthcare provider who takes into account risk factors specific to you. Recommendations may include:


  • Monthly self-breast exam (beginning at age 18)
  • Clinical breast examinations every 6-12 months (beginning at age 25)
  • Annual screening mammogram and breast MRI (beginning at age 35)
  • Discussion of breast tissue removal (mastectomy)
  • Discussion of uterus removal (hysterectomy) after childbearing age*

*For more information about UT Health Austin’s Cancer Fertility Preservation service, please visit here.

Men and Women

  • Annual thyroid ultrasound (beginning at age 7)
  • Colonoscopy every 5 years (beginning at age 35)
  • Renal ultrasound every 1-2 years (beginning at age 40)
  • Annual dermatologic exam

Treating Cowden Syndrome at UT Health Austin

Our genetic counselors help patients understand the benefits, limitations, and risks associated with undergoing genetic testing as well as how genetic testing affects healthcare management so that they can make informed decisions about their health. When discussing test results, our genetic counselors will work with you to develop a cancer screening plan specific to your needs.

Through our Multidisciplinary Case Conferences, we collaborate with our colleagues at The University of Texas at Austin and the Dell Medical School to stay informed of the latest research, diagnostic, and surveillance techniques, and we partner with existing providers in the Austin area to ensure we can successfully connect you with services recommended as part of your personalized cancer screening plan. We also provide you with community resources and help coordinate high-risk surveillance so that you have support every step of the way.

Care Team Approach

At UT Health Austin, we take a multidisciplinary approach to your care. This means you will benefit from the expertise of multiple specialists across a variety of disciplines caring for you in one place to avoid having to schedule multiple appointments with providers at locations all over the city. The Hereditary Cancer Screening and Risk Reduction care team includes clinical genetic counselors, medical oncologists, surgical oncologists, nurses, advanced practice providers, dietitians, social workers, and more as well as other members of the CaLM Care Team, who work together to help you get back to the things in your life that matter most to you. We also work alongside specialists across Cancer Fertility Preservation, Digestive Health, Women’s Health, Primary Care, Dermatology, and more.

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Hereditary Cancer Screening and Risk Reduction

Health Transformation Building, 8th Floor
1601 Trinity Street, Bldg. A, Austin, TX 78712
1-833-UT-CARES (1-833-882-2737)
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