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This fact sheet contains general information about Peutz-Jeghers syndrome (PJS). Each person should be referred to a genetic service for further information and advice. 

Key Points

  • PJS is caused by faults (mutations) in the STK11 gene.
  • Both men and women with PJS have an increased chance of developing cancer of the gastrointestinal tract and pancreas. Most people develop skin pigmentation and polyps (hamartomas) of the gastrointestinal tract. 
  • Women with PJS have an increased chance of developing breast, cervical and ovarian cancer.
  • Family members (including children) can be referred to a genetic service where experts can provide information, advice and support 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. 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/3431

17 Oct 2018