Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene
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Impairment of the GGNER pathway via deficiency in XPC or DDB2 leads to an important increased risk for UV-related cancer.
“Conversely, impairment of the GGNER pathway via a deficiency in DNA damage recognition proteins XPC or DDB2 [ 46 , 47 ], leads to an important increased risk for UV-related cancer.”
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- Authors
- Oh, K.-S., Emmert, S., Tamura, D., DiGiovanna, J. J., & Kraemer, K. H.
- Affiliations
- National Cancer Institute (US)
- University of Göttingen (DE)
- Corresponding author
- Kraemer, Kenneth H.
- Venue
- Journal of Investigative Dermatology
- Publisher
- Elsevier BV
- Published
- 2011-03
- Volume
- 131
- Issue
- 3
- Pages
- 785-788
- ISSN
- 0022-202X (ISSN-L)
- PMC
- PMC3471370
- OpenAlex
- W2055194601
- Cited by
- 26
- References
- 20
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 5 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 4 · 2013: 3 · 2012: 2
- FWCI
- 1.63
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Investigative Dermatology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (ZIABC004517)
- Topics
- Health Sciences › Medicine › Epidemiology › Nonmelanoma Skin Cancer Studies
- 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.
- Keywords
- DDB2, DNA repair gene mutations, multiple skin cancers, basal cell carcinoma, squamous cell carcinoma, nucleotide excision repair, ultraviolet radiation
- MeSH terms
- Adult, Basal Cell Carcinoma, Carcinoma, Squamous Cell, DNA Repair, DNA-Binding Proteins, Female, Humans, Male, Melanoma, Middle Aged, Mutation, Skin Neoplasms
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