Base Excision Repair Variants in Cancer

Carolyn G. Marsden, Julie A. Dragon, Susan S. Wallace, Joann B. Sweasy

Research output: Chapter in Book/Report/Conference proceedingChapter

22 Scopus citations


Base excision repair (BER) is a key genome maintenance pathway that removes endogenously damaged DNA bases that arise in cells at very high levels on a daily basis. Failure to remove these damaged DNA bases leads to increased levels of mutagenesis and chromosomal instability, which have the potential to drive carcinogenesis. Next-generation sequencing of the germline and tumor genomes of thousands of individuals has uncovered many rare mutations in BER genes. Given that BER is critical for genome maintenance, it is important to determine whether BER genomic variants have functional phenotypes. In this chapter, we present our in silico methods for the identification and prioritization of BER variants for further study. We also provide detailed instructions and commentary on the initial cellular assays we employ to dissect potentially important phenotypes of human BER variants and highlight the strengths and weaknesses of our approaches. BER variants possessing interesting functional phenotypes can then be studied in more detail to provide important mechanistic insights regarding the role of aberrant BER in carcinogenesis.

Original languageEnglish (US)
Title of host publicationMethods in Enzymology
PublisherAcademic Press Inc.
Number of pages39
StatePublished - 2017
Externally publishedYes

Publication series

NameMethods in Enzymology
ISSN (Print)0076-6879
ISSN (Electronic)1557-7988


  • Base excision repair
  • Cancer
  • Cellular transformation
  • DNA glycosylase
  • DNA polymerase
  • Genomic instability
  • Mutagenesis
  • Replication stress

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology


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