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This fact sheet contains general information about Cowden syndrome. Each person should see a genetic service for further information and advice. 

Key Points

  • Cowden syndrome/PTEN Hamartoma syndrome is caused by faults (mutations) in the PTEN gene.
  • Both men and women with PTEN Hamartoma syndrome have an increased chance of developing thyroid cancer and kidney cancer.
  • Women with PTEN Hamartoma syndrome have an increased chance of developing breast and uterine (endometrial) cancer.
  • Both men and women with PTEN Hamartoma syndrome have an increased chance of developing bowel polyps.
  • Men and women can be referred to a genetic service where experts can provide information, support and advice about their chance of developing cancer and the option of genetic testing.

This cancer genetics fact sheet is a guide only and cannot cover every possible situation. The information provided is not intended to replace discussion with a health professional, and should not be interpreted as medical advice. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use of this document is subject to eviQ's disclaimer available at  www.eviQ.org.au  

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https://www.eviq.org.au/p/3436

19 Oct 2021