Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer

Mol Med Today. 1999 Feb;5(2):86-94. doi: 10.1016/s1357-4310(98)01394-x.

Abstract

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease that is characterized by the extreme sensitivity of the skin to sunlight. Compared to normal individuals, XP patients have a more than 1000-fold increased risk of developing cancer on sun-exposed areas of the skin. Genetic and molecular analyses have revealed that the repair of ultraviolet (UV)-induced DNA damage is impaired in XP patients owing to mutations in genes that form part of a DNA-repair pathway known as nucleotide excision repair (NER). Two other diseases, Cockayne syndrome (CS) and the photosensitive form of trichothiodystrophy (TTD), are linked to a defect in the NER pathway. Strikingly, although CS and TTD patients are UV-sensitive, they do not develop skin cancer. The recently developed animal models that mimic the human phenotypes of XP, CS and TTD will contribute to a better understanding of the etiology of these diseases and the role of UV-induced DNA damage in the development of skin cancer.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA Damage* / radiation effects
  • Disease Models, Animal
  • Humans
  • Skin Neoplasms / genetics*
  • Syndrome
  • Ultraviolet Rays
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / physiopathology