Cancer in xeroderma pigmentosum and related disorders of DNA repair

@article{Cleaver2005CancerIX,
  title={Cancer in xeroderma pigmentosum and related disorders of DNA repair},
  author={James E. Cleaver},
  journal={Nature Reviews Cancer},
  year={2005},
  volume={5},
  pages={564-573}
}
  • J. Cleaver
  • Published 1 July 2005
  • Biology
  • Nature Reviews Cancer
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… 
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Historical aspects of xeroderma pigmentosum and nucleotide excision repair.
  • J. Cleaver
  • Biology
    Advances in experimental medicine and biology
  • 2008
TLDR
The discovery that xeroderma pigmentosum was a sun-sensitive hereditary human disease that was deficient in DNA repair was made when research into the fundamental mechanisms of nucleotide excision repair was in its infancy and established DNA repair as a central factor for maintaining genomic stability and preventing cancer, neurodegenerative disease and aging.
Nucleotide excision repair diseases: molecular biology underlying the clinical heterogeneity
TLDR
The effects of NER factors in oxidative and energy metabolism as a potential explanation for the clinical heterogeneity observed among different NER patients are discussed.
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
TLDR
The mapping of mutations in recently solved protein structures has begun to clarify the links between the molecular defects and phenotypes, but the identification of additional sources of clinical variability is still necessary.
Xeroderma Pigmentosum C: A Valuable Tool to Decipher the Signaling Pathways in Skin Cancers
TLDR
The characterization of the proteomic signature of an XPC mutant is essential to identify mediators that could be targeted to prevent cancer development in XPC patients, and signaling pathways disrupted in skin cancer are focused on.
Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases.
  • J. Cleaver
  • Medicine, Biology
    Current medical literature. Dermatology
  • 2008
TLDR
The relative incidence of the various forms of skin cancers in XP patients is similar to that in the general population, and UVB (280–320 nm) is the shorter wavelength radiation in sunlight that is responsible for most sun-induced cancers in thegeneral population, as well as inXP patients.
Xeroderma pigmentosum: clues to understanding cancer initiation
Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging
Xeroderma pigmentosum and skin cancer.
  • L. Daya-Grosjean
  • Biology, Medicine
    Advances in experimental medicine and biology
  • 2008
TLDR
The hypersensitivity of DNA repair deficient xeroderma pigmentosum (XP) patients to solar irradiation results in the development of high levels of squamous and basal cell carcinomas as well as malignant melanomas in early childhood, demonstrating the major role of the UV component of sunlight in skin cancer development.
Gene Expression Profiling of Xeroderma Pigmentosum
TLDR
Gen expression analysis has revealed distinct gene expression profiles for the XP complementation groups and the first step towards understanding the neurological symptoms of XP.
Regulation of global genome nucleotide excision repair by SIRT1 through xeroderma pigmentosum C
TLDR
It is shown that inhibition of the deacetylase and longevity factor SIRT1 impairs global genome NER through suppressing the transcription of XPC in a SIRT2 deacetyase-dependent manner, and levels of SIRT 1 are significantly reduced in human skin tumors from Caucasian patients, a population at highest risk of skin cancer.
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TLDR
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