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Single nucleotide polymorphisms in DNA repair genes and putative cancer risk

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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.

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Acknowledgments

The work was supported by Deutsche Forschungsgemeinschaft (DFG) and Exzellenzinitiative KIT.

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  1. Food Chemistry and Toxicology, Karlsruhe Institute of Technology, Adenauerring 20a, 76131, Karlsruhe, Germany

    Beate Köberle, Barbara Koch, Bettina M. Fischer & Andrea Hartwig

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  1. Beate Köberle
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  2. Barbara Koch
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  3. Bettina M. Fischer
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Correspondence to Beate Köberle.

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Köberle, B., Koch, B., Fischer, B.M. et al. Single nucleotide polymorphisms in DNA repair genes and putative cancer risk. Arch Toxicol 90, 2369–2388 (2016). https://doi.org/10.1007/s00204-016-1771-2

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