To see all protocols that comply with the WHO Essential Medicine List 

This fact sheet contains general information about polymerase proofreading-associated polyposis (PPAP).  Each person should be referred to a genetic service for further information and advice. 

Key Points

  • People with a faulty POLE (p.L424V) gene or POLD1 (p.S479N) gene have PPAP.
  • Both men and women with a faulty POLE or POLD1 gene have an increased chance of developing polyps in the bowel, small intestine (duodenum) and stomach.
  • Polyps are not cancerous but if left untreated, bowel (colorectal) or duodenal cancer can develop.
  • Women with a faulty POLD1 gene have an increased chance of developing uterine (endometrial) cancer.
  • Men and women 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  

Send feedback for this page

The currency of this information is guaranteed only up until the date of printing, for any updates please check:

21 Mar 2019