[From gene to disease; MutYH-associated polyposis coli (MAP)]

Ned Tijdschr Geneeskd. 2005 Dec 31;149(53):2970-2.
[Article in Dutch]

Abstract

MutYH-associated polyposis coli (MAP) is an autosomal recessive inherited form of polyposis and colorectal carcinoma associated with germline mutations in the MutYH gene on chromosome I. The MutYH protein is a base excision repair glycosylase which is involved in the repair of damage caused by the oxidation ofa guanine leading to 8-oxo-7,8-dihydroguanine. If the MutYH protein is dysfunctional, G:C --> T:A mutations in the APC-gene give rise to polyposis and in 50-60% of cases also colorectal carcinoma. MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Chromosomes, Human, Pair 1*
  • Colorectal Neoplasms / genetics*
  • DNA Damage
  • DNA Glycosylases / genetics*
  • Germ-Line Mutation*
  • Humans

Substances

  • DNA Glycosylases
  • mutY adenine glycosylase