Surgery Today

, Volume 44, Issue 4, pp 593–600 | Cite as

MUTYH-associated colorectal cancer and adenomatous polyposis

  • Satoru Yamaguchi
  • Hideo Ogata
  • Daisuke Katsumata
  • Masanobu Nakajima
  • Takaaki Fujii
  • Soichi Tsutsumi
  • Takayuki Asao
  • Kinro Sasaki
  • Hiroyuki Kuwano
  • Hiroyuki Kato
Review Article

Abstract

MUTYH-associated polyposis (MAP) was first described in 2002. MUTYH is a component of a base excision repair system that protects the genomic information from oxidative damage. When the MUTYH gene product is impaired by bi-allelic germline mutation, it leads to the mutation of cancer-related genes, such as the APC and/or the KRAS genes, via G to T transversion. MAP is a hereditary colorectal cancer syndrome inherited in an autosomal-recessive fashion. The clinical features of MAP include the presence of 10–100 adenomatous polyps in the colon, and early onset of colorectal cancer. Ethnic and geographical differences in the pattern of the MUTYH gene mutations have been suggested. In Caucasian patients, c.536A>G (Y179C) and c.1187G>A (G396D) mutations are frequently detected. In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP. We herein review the literature on MUTYH-associated colorectal cancer and adenomatous polyposis.

Keywords

DNA repair MUTYH gene Adenomatous polyposis MAP Colorectal cancer 

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Copyright information

© Springer Japan 2013

Authors and Affiliations

  • Satoru Yamaguchi
    • 1
    • 2
  • Hideo Ogata
    • 1
  • Daisuke Katsumata
    • 1
  • Masanobu Nakajima
    • 1
  • Takaaki Fujii
    • 2
  • Soichi Tsutsumi
    • 2
  • Takayuki Asao
    • 2
  • Kinro Sasaki
    • 1
  • Hiroyuki Kuwano
    • 2
  • Hiroyuki Kato
    • 1
  1. 1.Department of Surgical OncologyDokkyo Medical UniversityMibu Japan
  2. 2.Department of General Surgical ScienceGunma University Graduate School, Graduate School of MedicineMaebashiJapan

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