{"entity":{"id":"mutyh-associated-polyposis","kind":"term","name":"MUTYH-associated polyposis","aka":["MUTYH-related polyposis","biallelic MUTYH"],"tldr":"MUTYH-associated polyposis is an inherited bowel condition in which a person has two faulty copies of the MUTYH gene, one from each parent, and develops many bowel polyps and a high risk of bowel cancer. Yearly colonoscopy from about 18 to 20, or surgery to remove the bowel, is recommended to prevent these cancers.","summary":"Autosomal recessive: biallelic pathogenic variants in the base-excision repair gene MUTYH. The phenotype overlaps with familial adenomatous polyposis and is usually more attenuated, but varies; a cumulative colorectal cancer risk of 63% at 60 years has been reported, MAP accounts for up to 29% of patients with 10 to 100 adenomas, and duodenal adenomas are reported in 17 to 34% (figures as summarised in the BSG 2020 guideline).\n\nBSG/ACPGBI/UKCGG 2020: start colonoscopy at 18 to 20 and repeat annually if surgery is not done; surgery may be the more appropriate strategy, balanced against age, comorbidity and function; consider upper gastrointestinal surveillance from 35, with intervals set as for FAP (Spigelman staging). People with one MUTYH variant (monoallelic carriers) are not at high enough risk for routine colonoscopy (strong recommendation, moderate evidence).","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/MUTYH-associated_polyposis","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:247798","url":"https://www.orpha.net/en/disease/detail/247798"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["colorectal"],"sections":[],"technologies":["germline-testing"],"targets":["mutyh"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["colonoscopy","endoscopy","colectomy","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:247798 (MUTYH-related polyposis). In the NHS directory it is tested under R211, inherited polyposis and early-onset colorectal cancer."],"category":"Genomics & genetics"},"route":"/terms/mutyh-associated-polyposis/","neighbours":{"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"mutyh","kind":"target","name":"MUTYH","route":"/targets/mutyh/"}],"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/"},{"id":"nthl1-associated-polyposis","kind":"term","name":"NTHL1-associated polyposis","route":"/terms/nthl1-associated-polyposis/"}],"drug":[{"id":"23andme-mutyh-report","kind":"drug","name":"23andMe Genetic Health Risk Report for MUTYH-Associated Polyposis","route":"/drugs/23andme-mutyh-report/"},{"id":"invitae-common-hereditary-cancers-panel","kind":"drug","name":"Invitae Common Hereditary Cancers Panel","route":"/drugs/invitae-common-hereditary-cancers-panel/"}]}}