Cite this page: MUTYH pathway. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/colontumormolecularMYH.html. Accessed February 25th, 2018.
Definition / general
- Biallelic patients (mutations in both genes) have multiple adenomas (Hum Mutat 2006;27:1064) and 93× excess risk of colorectal carcinoma compared to normal controls but account for < 1% of all cases (Am J Hum Genet 2005;77:112)
- Germline mutation of MUTYH gene is a mechanism of development of APC negative familial adenomatous polyposis; these patients may have a family history compatible with recessive inheritance indicating that this may be a different disease; genetic testing may be helpful in screening, diagnosis and management of atypical FAP cases
- Can be detected by high resolution melting analysis