Cancer in xeroderma pigmentosum and related disorders of DNA repair

Nat Rev Cancer. 2005 Jul;5(7):564-73. doi: 10.1038/nrc1652.

Abstract

Nucleotide-excision repair diseases exhibit cancer, complex developmental disorders and neurodegeneration. Cancer is the hallmark of xeroderma pigmentosum (XP), and neurodegeneration and developmental disorders are the hallmarks of Cockayne syndrome and trichothiodystrophy. A distinguishing feature is that the DNA-repair or DNA-replication deficiencies of XP involve most of the genome, whereas the defects in CS are confined to actively transcribed genes. Many of the proteins involved in repair are also components of dynamic multiprotein complexes, transcription factors, ubiquitylation cofactors and signal-transduction networks. Complex clinical phenotypes might therefore result from unanticipated effects on other genes and proteins.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Child
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / physiopathology
  • DNA Repair / genetics
  • DNA-Binding Proteins / genetics
  • Developmental Disabilities / genetics
  • Heredodegenerative Disorders, Nervous System / genetics
  • Humans
  • Neoplasms / etiology
  • Neoplasms / genetics*
  • Neoplasms / physiopathology
  • Transcription, Genetic / genetics
  • Xeroderma Pigmentosum / complications
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / physiopathology
  • Xeroderma Pigmentosum Group A Protein

Substances

  • DNA-Binding Proteins
  • XPA protein, human
  • Xeroderma Pigmentosum Group A Protein