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Defective DNA Repair and Cancer

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Research in Photobiology

Summary

A relationship between defective DNA repair and actinic carcinogenesis is supported by the following observations:

  1. 1.

    As seen by complementation analysis, at least 5 different mutations affecting excision repair in human cells result in the genetic skin disease xeroderma pigmentosum, with a high incidence of malignancies.

  2. 2.

    The XP patients with normal excision repair have shown to be defective in post replication repair.

  3. 3.

    We have found an inverse correlation between the residual levels of DNA repair in cells of different XP patients and the severity of their clinical symptoms. This observation is not supported by the findings of Robbins and coworkers ( 38) in their comprehensive study of patients from the USA, whereas it is supported by the study of Takebe (44 ) dealing with Japanese XP patients. This discrepancy might be the result of environmental factors which may influence the phenotypic expression of the XP genotype, e.g. the amount of sun exposure.

  4. 4.

    At least one other genetic disease in man, the Louis-Bar syndrome (Ataxia telangiectasia), in which an increased incidence of malignancy is observed, exhibits a DNA repair defect. In this disease evidence is presented for a decreased excision of gamma-ray-induced DNA base lesions. A DNA repair defect, concerning the repair of DNA interstrand cross links, might be present in Fanconi’s anemia.

The mechanism by which defective DNA repair causes malignancy is still subject of speculation. At present this question is approached by several groups of investigators studying a.o. the induction of mutations. By comparing the different DNA repair mutants of human origin, for their susceptibility for mutation,information is obtained concerning the error prone and error free components of DMA repair in human cells.

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Author information

Authors and Affiliations

  1. Dept. of Cell Biology and Genetics, Erasmus University, P.O.Box 1738, Rotterdam, The Netherlands

    D. Bootsma

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  1. D. Bootsma
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Editors and Affiliations

  1. Division of Radiation Protection, CNEN, Centro Studi Nucleari, Casaccia, Rome, Italy

    Amleto Castellani

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© 1977 Plenum Press, New York

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Bootsma, D. (1977). Defective DNA Repair and Cancer. In: Castellani, A. (eds) Research in Photobiology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-4160-4_47

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  • DOI: https://doi.org/10.1007/978-1-4613-4160-4_47

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-4162-8

  • Online ISBN: 978-1-4613-4160-4

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