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).
The care of an individual who has developed a related tumour or cancer 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 two or more genes that confer a predisposition to cancer should also be individualised.