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MUTYH

Pathology

- biallelic mutations of MUTYH in:

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

See also

- DNA glycosylases

- base excision repair

References

- 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