{"entity":{"id":"juvenile-polyposis-syndrome","kind":"term","name":"Juvenile polyposis syndrome","aka":["JPS","juvenile polyposis","SMAD4 juvenile polyposis","BMPR1A juvenile polyposis"],"tldr":"Juvenile polyposis syndrome is an inherited condition, often caused by a fault in SMAD4 or BMPR1A, that causes many non-cancerous polyps in the stomach and bowel and raises the risk of bowel and stomach cancer. Regular endoscopy from the teenage years removes the polyps before they bleed or turn into cancer.","summary":"Clinical criteria: at least five juvenile polyps in the colon, juvenile polyps in both the upper and lower gut, or any number with a family history; a germline variant in SMAD4 or BMPR1A is found in many. Colorectal cancer incidence is estimated at 10 to 50% and gastric cancer up to 20%, varying with the gene (AACR 2024); SMAD4 carriers have more gastric polyps and hereditary haemorrhagic telangiectasia.\n\nBSG 2020: colonoscopy from 15 (earlier with symptoms) every one to three years by phenotype; upper endoscopy from 18 for SMAD4 carriers and from 25 for BMPR1A carriers and those without a variant; SMAD4 carriers should be assessed for hereditary haemorrhagic telangiectasia; colectomy where polyps cannot be controlled endoscopically. The AACR 2024 update recommends genetic testing before 15 in familial disease and colonoscopy from 12 to 15 and upper endoscopy from 15 in children without symptoms.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Juvenile_polyposis_syndrome","links":[{"label":"Monahan, Gut 2020: BSG, ACPGBI and UKCGG guidelines for the management of hereditary colorectal cancer","url":"https://doi.org/10.1136/gutjnl-2019-319915"},{"label":"MacFarland, Clin Cancer Res 2024: paediatric screening in hereditary gastrointestinal cancer syndromes (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-0953"},{"label":"Orphanet ORPHA:2929","url":"https://www.orpha.net/en/disease/detail/2929"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["colorectal","gastric"],"sections":[],"technologies":["germline-testing"],"targets":["smad4","bmpr1a"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["colonoscopy","endoscopy","colectomy","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:2929. In the NHS directory it is tested under R211, inherited polyposis."],"category":"Genomics & genetics"},"route":"/terms/juvenile-polyposis-syndrome/","neighbours":{"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"bmpr1a","kind":"target","name":"BMPR1A","route":"/targets/bmpr1a/"},{"id":"smad4","kind":"target","name":"SMAD4","route":"/targets/smad4/"}],"term":[{"id":"colectomy","kind":"term","name":"Colectomy","route":"/terms/colectomy/"},{"id":"colonoscopy","kind":"term","name":"Colonoscopy","route":"/terms/colonoscopy/"},{"id":"endoscopy","kind":"term","name":"Endoscopy (EGD, EUS, ERCP)","route":"/terms/endoscopy/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}],"drug":[{"id":"color-hereditary-cancer-test","kind":"drug","name":"Color Hereditary Cancer Test","route":"/drugs/color-hereditary-cancer-test/"},{"id":"invitae-common-hereditary-cancers-panel","kind":"drug","name":"Invitae Common Hereditary Cancers Panel","route":"/drugs/invitae-common-hereditary-cancers-panel/"}]}}