DNA base excision repair defects in human pathologies

Research output: Contribution to journalArticlepeer-review


DNA base excision repair (BER) is the main pathway for repair of endogenous damage in human cells. It was expected that a number of degenerative diseases could derive from BER defects. On the contrary, the link between BER defects and human pathology is elusive and the literature is full of conflicting results. The fact that most studies have investigated DNA variations but not their functional consequences has probably contributed to this confusing picture. From a functional point of view, it is likely that gross BER defects are simply not compatible with life and only limited reductions can be observed. Notwithstanding those limits, the pathological consequences of partial BER defects might be widespread and significant at the population level. This starts to emerge in particular for colorectal and lung cancer.

Original languageEnglish
Pages (from-to)1037-1054
Number of pages18
JournalFree Radical Research
Issue number10
Publication statusPublished - Oct 2004


  • 8-oxoguanine
  • DNA base excision repair
  • Glycosylase
  • Mutation
  • Polymorphism

ASJC Scopus subject areas

  • Biochemistry


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