Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): a survey study
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CS patients are highly photosensitive, burning and blistering after only minutes of sun exposure.
“CS patients are also highly photosensitive, burning and blistering after only minutes of sun exposure (5).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [5]
The survey results report frequent sunburn (91.67%), blistering sunburn (40.68%), and pain upon sun exposure (46.67%) among CS patients. They do not say that burning or blistering occurs after only minutes of exposure (survey results; page not provided). (LLM, conf=0.86)
Experimental — accuracy not yet measuredCS patients, defective in the TCR branch of NER, present developmental defects and neurodegeneration; many but not all are photosensitive, some developing blistering sunburns.
“CS patients, defective in the TCR branch of NER (1, 27), present a very different clinical picture, one of developmental defects and neurodegeneration; many but not all patients are also photosensitive, some developing blistering sunburns (5, 28).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [5]
No known CS patient has ever developed cancer.
“In contrast to XP-C patients, no known CS patient has ever developed cancer (4, 5, 8).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [5]
Although patients with CS and TTD have mutations in NER genes, they are cancer-free but generally present developmental defects, neurodegeneration, and accelerated aging.
“Curiously, although patients with CS and TTD also have mutations in NER genes, they are cancer-free [207] but generally present developmental defects, neurodegeneration, and accelerated aging [208].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [207]
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Repair Mechanisms and Initiation in Carcinogenesis
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- Authors
- Zhang, W. R., Garrett, G. L., Cleaver, J. E., & Arron, S. T.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Arron, Sarah T.
- Venue
- Journal of the American Academy of Dermatology
- Publisher
- Elsevier BV
- Published
- 2016-06
- Volume
- 74
- Issue
- 6
- Pages
- 1270-1272
- ISSN
- 0190-9622 (ISSN-L)
- OpenAlex
- W2393439956
- Cited by
- 19
- References
- 5
- Citations by year
- 2024: 1 · 2022: 2 · 2021: 2 · 2020: 2 · 2018: 4 · 2017: 6 · 2016: 2
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of the American Academy of Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Epidemiology › Nonmelanoma Skin Cancer Studies
- Keywords
- Cockayne syndrome, skin cancer, nucleotide excision repair, DNA repair deficiency, xeroderma pigmentosum
- MeSH terms
- Poly-ADP-Ribose Binding Proteins, Child, Cockayne Syndrome, DNA Helicases, Health Surveys, Humans, Skin Neoplasms, Transcription Factors, United States, DNA Repair Enzymes
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