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 males and females with PJS have an increased chance of developing cancer of the gastrointestinal tract, stomach and pancreas. Most people develop skin pigmentation and polyps (hamartomas) of the gastrointestinal tract. 
  • Females 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. 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  

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30 May 2024