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Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA repair defects and skin cancer

  • Chapter
Genetic Predisposition to Cancer

Abstract

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease [1] with a combination of clinical, cellular and molecular features which initially generated an intellectually satisfying and simple association between defects in DNA repair, increased mutability and cancer proneness. As the study of XP patients has proceeded, however, interesting anomalies and unanticipated complexities have been uncovered. In particular, as a consequence of using XP as a model, two other, extremely rare but not cancer-prone, autosomal recessive diseases, Cockayne syndrome (CS) and trichothiodystrophy (TTD) [2] have extended the apparent relationship of DNA repair defects to a wide spectrum of associated clinical features. The relationship between the three conditions is complex — there are a few individuals with the features of both XP and CS, and mutations in one of the XP genes can give rise to individuals with XP alone, XP with CS, or TTD alone. In order to understand the relationship between DNA damage/repair and cancer revealed in XP, it is necessary to study all three conditions at the clinical, cellular and molecular levels.

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Authors
  1. Colin F. Arlett
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  2. Alan R. Lehmann
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Editors and Affiliations

  1. Cancer Genetics and Clinical Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Rosalind A. Eeles (Senior Lecturer and Honorary Consultant) (Senior Lecturer and Honorary Consultant)

  2. CRC Human Cancer Genetics Research Group, University of Cambridge, UK

    Bruce A. J. Ponder (Director) (Director)

  3. CRC Genetic Epidemiology Unit, University of Cambridge, UK

    Douglas F. Easton (Director) (Director)

  4. Academic Unit of Radiotherapy and Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Alan Horwich (Director of Clinical Research) (Director of Clinical Research)

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© 1996 Springer Science+Business Media Dordrecht

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Arlett, C.F., Lehmann, A.R. (1996). Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA repair defects and skin cancer. In: Eeles, R.A., Ponder, B.A.J., Easton, D.F., Horwich, A. (eds) Genetic Predisposition to Cancer. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-4501-3_12

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  • DOI: https://doi.org/10.1007/978-1-4899-4501-3_12

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  • Print ISBN: 978-0-412-56580-9

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