Learn About Cowden Syndrome

What is the definition of Cowden Syndrome?

Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

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What are the causes of Cowden Syndrome?

Changes in the PTEN, KLLN, or WWP1 gene are most commonly identified in people with Cowden syndrome or Cowden-like syndrome.

How prevalent is Cowden Syndrome?

Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.

Is Cowden Syndrome an inherited disorder?

Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

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What are the latest Cowden Syndrome Clinical Trials?
A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome

Background: Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome.

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Familial Investigations of Childhood Cancer Predisposition

Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...

Who are the sources who wrote this article ?

Published Date: March 03, 2021Published By: National Institutes of Health

What are the Latest Advances for Cowden Syndrome?
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Tumor Syndromes: Neurosurgical Evaluation and Management.
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Gynecological lesions in hereditary cancer predisposition syndromes.