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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.
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).
BSG/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).
In plain words · MUTYH (Adenine DNA glycosylase) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.
Showing the target this term concerns: MUTYH.
Shares Colectomy, Invitae Common Hereditary Cancers Panel, Colonoscopy, Endoscopy (EGD, EUS, ERCP) and the tag hereditary.
Shares Invitae Common Hereditary Cancers Panel, Endoscopy (EGD, EUS, ERCP), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Invitae Common Hereditary Cancers Panel, Colonoscopy, Endoscopy (EGD, EUS, ERCP), Hereditary cancer syndromes and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Invitae Common Hereditary Cancers Panel, Endoscopy (EGD, EUS, ERCP), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
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