Colon tumor
Molecular pathways of colorectal carcinoma
MUTYH pathway

Author: Shilpa Jain, M.D. New York University (see Authors page)

Revised: 22 December 2016, last major update September 2010

Copyright: (c) 2003-2016,, Inc.

PubMed Search: MUTYH pathway

Cite this page: MUTYH pathway. website. Accessed October 16th, 2018.
Definition / general
Clinical features
  • 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