Home   Chapter Home   Jobs   Conferences   Fellowships   Books


Colon tumor

Molecular pathways of colorectal carcinoma

MUTYH pathway

Reviewers: Shilpa Jain, M.D, New York University (see Reviewers page)
Revised: 4 August 2016, last major update September 2010
Copyright: (c) 2003-2016, PathologyOutlines.com, Inc.

Definition / General

● See also MUTYH associated polyposis
● MUTYH (also called MYH) gene encodes MUTYH glycosylase, involved in oxidative DNA damage repair (Wikipedia)
● Mutations occur in both copies of MUTYH repair gene
● Genetic pathway is not well understood (Curr Genomics 2008;9:420)


● Biallelic patients (mutations in both genes) have multiple adenomas (Hum Mutat 2006;27:1064), and 93x 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 (BMC Cancer 2010;10:408)

End of Colon tumor > Molecular pathways of colorectal carcinoma > MUTYH pathway

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at [email protected] with any questions (click here for other contact information).