Variation in Base Excision Repair Capacity

Overview

Journal Mutat Res

Publisher Elsevier

Specialty Genetics

Date 2010 Dec 21

PMID 21167187

Citations 61

Authors

David M Wilson 3rd

Daemyung Kim

Brian R Berquist

Alice J Sigurdson

Affiliations

Soon will be listed here.

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.

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