Juvenile polyposis syndrome (JPS) is an autosomal dominant condition. It can be due to a germline pathogenic variant in the SMAD4 or BMPR1A genes.
Juvenile polyposis syndrome is associated with a predisposition to multiple hamartomatous gastrointestinal polyps, often before the age of 20. SMAD4 pathogenic variants are associated with hereditary haemorrhagic telangiectasia (HHT).
This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour. The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up.
The risk management of an individual with a pathogenic variant in 2 or more genes that confer a predisposition to cancer should also be individualised.