MutYH (MYH) and colorectal cancer

Biochem Soc Trans. 2005 Aug;33(Pt 4):679-83. doi: 10.1042/BST0330679.

Abstract

MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Base Pair Mismatch / genetics
  • Colorectal Neoplasms / genetics*
  • DNA Damage
  • DNA Glycosylases / genetics*
  • Humans
  • Mutation*

Substances

  • DNA Glycosylases
  • mutY adenine glycosylase