MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors

Tiziana Venesio, Antonella Balsamo, Vito G. D'Agostino, Guglielmina N. Ranzani

Research output: Contribution to journalArticlepeer-review

Abstract

In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations of MUTYH, a gene encoding a base excision repair (BER) protein that counteracts the DNA damage induced by the oxidative stress. MUTYH-associated polyposis (MAP) is now a well-defined cancer susceptibility syndrome, showing peculiar molecular features that characterize disease progression. However, some aspects of MAP, including diagnostic criteria, genotype-phenotype correlations, pathogenicity of variants, as well as relationships between BER and other DNA repair pathways, are still poorly understood. A deeper knowledge of the MUTYH expression pattern is likely to refine our understanding of the protein role and, finally, to improve guidances for identifying and handling MAP patients.

Original languageEnglish
Article numberArticle 83
JournalFrontiers in Oncology
Volume2 AUG
DOIs
Publication statusPublished - 2012

Keywords

  • Base excision repair (BER)
  • Colorectal cancer (CRC)
  • Familial adenomatous polyposis (FAP)
  • Hereditary non-polyposis colorectal cancer (HNPCC)
  • Mismatch repair (MMR)
  • MUTYH-associated polyposis (MAP)

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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