Colon tumor
Molecular pathways
MUTYH pathway

Topic Completed: 1 September 2010

Revised: 21 June 2019

Copyright: 2003-2019,, Inc.

PubMed Search: MUTYH pathway

Shilpa Jain, M.D.
Page views in 2018: 116
Page views in 2019 to date: 182
Cite this page: Jain S. MUTYH pathway. website. Accessed December 14th, 2019.
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
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