Nucleotide Excision Repair: From Neurodegeneration to Cancer

  • Anastasios Liakos
  • Matthieu D. LavigneEmail author
  • Maria FousteriEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1007)


DNA damage poses a constant threat to genome integrity taking a variety of shapes and arising by normal cellular metabolism or environmental insults. Human syndromes, characterized by increased cancer pre-disposition or early onset of age-related pathology and developmental abnormalities, often result from defective DNA damage responses and compromised genome integrity. Over the last decades intensive research worldwide has made important contributions to our understanding of the molecular mechanisms underlying genomic instability and has substantiated the importance of DNA repair in cancer prevention in the general population. In this chapter, we discuss Nucleotide Excision Repair pathway, the causative role of its components in disease-related pathology and recent technological achievements that decipher mutational landscapes and may facilitate pathological classification and personalized therapy.


NER deficiency syndromes Genotype-phenotype relationship DNA damage responses Cancer genomics NER-associated somatic mutation landscapes Synthetic lethality 


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Copyright information

© American Association of Pharmaceutical Scientists 2017

Authors and Affiliations

  1. 1.Biomedical Sciences Research Center ‘Alexander Fleming’Vari, AthensGreece

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