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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  www.eviQ.org.au  

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https://www.eviq.org.au/p/3434

21 Sep 2018