title: Single nucleotide polymorphisms in DNA repair genes and putative cancer risk.
abstract: Single nucleotide polymorphisms (SNPs) are the most frequent type of genetic alterations between individuals. An SNP located within the coding sequence of a gene may lead to an amino acid substitution and in turn might alter protein function. Such a change in protein sequence could be functionally relevant and therefore might be associated with susceptibility to human diseases, such as cancer. DNA repair mechanisms are known to play an important role in cancer development, as shown in various human cancer syndromes, which arise due to mutations in DNA repair genes. This leads to the question whether subtle genetic changes such as SNPs in DNA repair genes may contribute to cancer susceptibility. In numerous epidemiological studies, efforts have been made to associate specific SNPs in DNA repair genes with altered DNA repair and cancer. The present review describes some of the common and most extensively studied SNPs in DNA repair genes and discusses whether they are functionally relevant and subsequently increase the likelihood that cancer will develop.
authors.affiliation: Food Chemistry and Toxicology, Karlsruhe Institute of Technology, Adenauerring 20a, 76131, Karlsruhe, Germany. beate.koeberle@kit.edu.
authors.forename: Beate
authors.identifier: http://orcid.org/0000-0003-1469-9150
authors.initials: B
authors.lastname: Köberle
authors.affiliation: Food Chemistry and Toxicology, Karlsruhe Institute of Technology, Adenauerring 20a, 76131, Karlsruhe, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Koch
authors.affiliation: Food Chemistry and Toxicology, Karlsruhe Institute of Technology, Adenauerring 20a, 76131, Karlsruhe, Germany.
authors.forename: Bettina M
authors.initials: BM
authors.lastname: Fischer
authors.affiliation: Food Chemistry and Toxicology, Karlsruhe Institute of Technology, Adenauerring 20a, 76131, Karlsruhe, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Hartwig
mesh_terms: D000818:Animals; D004260:DNA Repair / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D004268:DNA-Binding Proteins; D045643:DNA Repair Enzymes
keywords: Cancer susceptibility; Cancer treatment; DNA repair mechanisms; Repair genes; Single nucleotide polymorphism