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Six Genes Associated with the Clinical Phenotypes of Individuals with Deficient and Proficient DNA Repair

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Author(s): Tobias Gremmel | Susanne Wild | Winfried Schuller | Viola Kürten | Klaus Dietz | Jean Krutmann | Mark Berneburg

Journal: Translational Oncogenomics
ISSN 1177-2727

Volume: 3;
Start page: 1;
Date: 2008;
Original page

Keywords: array analysis | basal cell carcinoma | DNA repair | squamous cell carcinoma | skin cancer risk | xeroderma pigmentosum

ABSTRACT
Xeroderma pigmentosum (XP) is a genetic disorder characterised by hypo-/hyperpigmentation, increased sensitivity to ultraviolet (UV)-radiation and an up to 2000-fold increased skin cancer risk. Cells from XP-patients are defective in nucleotide excision repair (NER) responsible for repair of UV-induced DNA damage. This defect accounts for their mutator phenotype but does not predict their increased skin cancer risk. Therefore, we carried out array analysis to measure the expression of more than 1000 genes after UVB-irradiation in XP cells from three complementation groups with different clinical severity (XP-A, XP-D, XP-F) as well as from patients with normal DNA repair but increased skin cancer risk (≥2 basal or squamous cell carcinoma at age
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