Cited by 164DNA Repair MechanismsGenetic factors in colorectal cancerNonmelanoma Skin Cancer Studies

Nucleotide excision repair and cancer

Leibeling, Diana, Laspe, Petra, Emmert, Steffen·2006·Journal of Molecular Histology

Abstract

Nucleotide excision repair (NER) is the most versatile and best studied DNA repair system in humans. NER can repair a variety of bulky DNA damages including UV-light induced DNA photoproducts. NER consists of a multistep process in which the DNA lesion is recognized and demarcated by DNA unwinding. Then, an approximately 28 bp DNA damage containing oligonucleotide is excised followed by gap filling using the undamaged DNA strand as a template. The consequences of defective NER are demonstrated by three rare autosomal-recessive NER-defective syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). XP patients show severe sun sensitivity, freckling in sun exposed skin, and develop skin cancers already during childhood. CS patients exhibit sun sensitivity, severe neurologic abnormalities, and cachectic dwarfism. Clinical symptoms of TTD patients include sun sensitivity, freckling in sun exposed skin areas, and brittle sulfur-deficient hair. In contrast to XP patients, CS and TTD patients are not skin cancer prone. Studying these syndromes can increase the knowledge of skin cancer development including cutaneous melanoma as well as basal and squamous cell carcinoma in general that may lead to new preventional and therapeutic anticancer strategies in the normal population.

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Crossref · 10.1007/s10735-006-9041-x

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125 of 125 references verified0 citation errors · 0 not checkable

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  • TTDA and TTDN1 genes may harbor mutations, but they do not contribute to UV sensitivity.

    “TTDA (general transcription factor IIH subunit 5) and TTDN1 (trichothiodystrophy non-photosensitive 1) genes may also harbor a mutation; however, they do not contribute to UV sensitivity [107,160,161,162].”

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Authors
Leibeling, D., Laspe, P., & Emmert, S.
Affiliations
University of Göttingen (DE)
Corresponding author
Emmert, Steffen
Venue
Journal of Molecular Histology
Published
2006-07-20
Volume
37
Issue
5-7
Pages
225-238
ISSN
  • 1567-2379 (ISSN-L)
  • 1567-2387
OpenAlex
W2140447069
Cited by
164
References
124
Citations by year
2026: 1 · 2025: 4 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 9 · 2019: 6 · 2018: 12 · 2017: 5 · 2016: 8 · 2015: 8 · 2014: 9 · 2013: 15 · 2012: 13
FWCI
0.95
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Molecular Histology (publishedVersion)
  • PubMed (publishedVersion)
  • GRO (submittedVersion)
Funders
Deutsche Forschungsgemeinschaft
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Health Sciences › Medicine › Epidemiology › Nonmelanoma Skin Cancer Studies
Keywords
nucleotide excision repair, DNA repair, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, UV-induced DNA damage, DNA photoproducts, skin cancer, cutaneous melanoma, basal cell carcinoma, squamous cell carcinoma, sun sensitivity, DNA damage recognition, gap filling
MeSH terms
Cockayne Syndrome, DNA Repair, Hair Diseases, Humans, Neoplasms, Syndrome, Xeroderma Pigmentosum

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