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Mutat Res. 2011 Jun 3;711(1-2):100-12. doi: 10.1016/j.mrfmmm.2010.12.004. Epub 2010 Dec 15.

Variation in base excision repair capacity.

Author information

  • 1Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, United States. wilsonda@mail.nih.gov

Abstract

The major DNA repair pathway for coping with spontaneous forms of DNA damage, such as natural hydrolytic products or oxidative lesions, is base excision repair (BER). In particular, BER processes mutagenic and cytotoxic DNA lesions such as non-bulky base modifications, abasic sites, and a range of chemically distinct single-strand breaks. Defects in BER have been linked to cancer predisposition, neurodegenerative disorders, and immunodeficiency. Recent data indicate a large degree of sequence variability in DNA repair genes and several studies have associated BER gene polymorphisms with disease risk, including cancer of several sites. The intent of this review is to describe the range of BER capacity among individuals and the functional consequences of BER genetic variants. We also discuss studies that associate BER deficiency with disease risk and the current state of BER capacity measurement assays.

Published by Elsevier B.V.

PMID:
21167187
[PubMed - indexed for MEDLINE]
PMCID:
PMC3101302
Free PMC Article

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