MUTYH

The MUTYH gene encodes a key glycosylase of the base-excision repair system that is involved in maintaining genomic DNA stability against oxidative damage.

Pathology

 biallelic mutations of MUTYH in:

• MUTYH-associated polyposis (autosomal recessive colorectal adenomatous polyposis) (MIM.608456)
• MUTYH-associated gastric carcinoma (sporadic gastric carcinoma) (MIM.137215)
• MUTYH-associated association pilomatrixoma/colorectal adenomatous polyposis

 MUTYH-associated polyposis (autosomal recessive colorectal adenomatous polyposis) (MIM.608456)

• Biallelic germline MUTYH mutations have been proved to greatly predispose to non-familial adenomatous polyposis (FAP) and non-hereditary non-polyposis colorectal cancer (HNPCC) familial recessive forms of colorectal cancer with multiple adenomas.
• To date, there is still much debate over the impact of monoallelic germline MUTYH mutations on colorectal carcinogenesis. Heterozygous MUTYH mutations do not play a major role in sporadic colorectal carcinogenesis although a modest effect on this process cannot be ruled out. (17931073)

See also

 DNA glycosylases

• OGG1
• NUDT1

 base excision repair

• base-excision repair diseases

References

 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. Nielsen M, de Miranda NF, van Puijenbroek M, Jordanova ES, Middeldorp A, van Wezel T, van Eijk R, Tops CM, Vasen HF, Hes FJ, Morreau H. BMC Cancer. 2009 Jun 15;9:184. PMID: 19527492 [Free]

 MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. de Miranda NF, Nielsen M, Pereira D, van Puijenbroek M, Vasen HF, Hes FJ, van Wezel T, Morreau H. J Pathol. 2009 Sep;219(1):69-76. PMID: 19462419 [Free]

 The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. Küry S, Buecher B, Robiou-du-Pont S, Scoul C, Colman H, Lelièvre B, Olschwang S, Le Houérou C, Le Neel T, Faroux R, Ollivry J, Lafraise B, Chupin LD, Bézieau S. Genet Test. 2007 Winter;11(4):373-9. PMID: 17931073

 MUTYH-associated polyposis carcinomas frequently lose HLA class I expression-a common event amongst DNA-repair-deficient colorectal cancers. de Miranda NF, Nielsen M, Pereira D, van Puijenbroek M, Vasen HF, Hes FJ, van Wezel T, Morreau H. J Pathol. 2009 Apr 17. PMID: 19462419

 Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15 ;12 Spec No 2 :R159-65. Epub 2003 Aug 05. PMID : 12915454