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Colon tumor

Molecular pathways of colorectal carcinoma

MUTYH pathway


Reviewers: Shilpa Jain, M.D, New York University (see Reviewers page)
Revised: 31 October 2010, last major update September 2010
Copyright: (c) 2003-2010, PathologyOutlines.com, Inc.

Definition / General
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● 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)

Clinical
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● 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


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