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Carcinogenesis Advance Access originally published online on February 24, 2005
Carcinogenesis 2005 26(6):1085-1090; doi:10.1093/carcin/bgi055
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Carcinogenesis vol.26 no.6 © Oxford University Press 2005; all rights reserved.

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study

Sandra Blankenburg, Inke R. König 2, Rotraut Moessner, Petra Laspe, Kai-Martin Thoms, Ullrich Krueger, Sikandar G. Khan 3, Goetz Westphal 1, Carola Berking 4, Matthias Volkenandt 4, Kristian Reich, Christine Neumann, Andreas Ziegler 2, Kenneth H. Kraemer 3 and Steffen Emmert *

Department of Dermatology and 1 Department of Occupational and Social Medicine, Georg-August-University, Goettingen, Germany, 2 Institute of Medical Biometry and Statistics, University Hospital Schleswig-Holstein–Campus Lübeck, Germany, 3 Basic Research Laboratory, Center for Cancer Research, National Cancer Institute/NIH, Bethesda, MD, USA and 4 Department of Dermatology, Ludwig-Maximilians-University, Munich, Germany

* To whom correspondence should be addressed at: Department of Dermatology, Georg-August-University Goettingen, Von-Siebold-Strasse 3, 37075 Goettingen, Germany. Tel: +49 551 396410; Fax: +49 551 392414; E-mail: semmert{at}gwdg.de

Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sensitive to the sun and exhibit a 1000-fold increased risk for developing skin cancers, including cutaneous melanoma. Inherited polymorphisms of XP genes may contribute to subtle variations in DNA repair capacity and genetic susceptibility to melanoma. We investigated the role of three polymorphic alleles of the DNA repair gene XPC in a hospital-based case–control study of 294 Caucasian patients from Germany who had cutaneous melanoma and 375 healthy cancer-free sex-matched Caucasian control subjects from the same area. We confirmed that the XPC intron 9 PAT+, intron 11 –6A, and the exon 15 2920C polymorphisms are in a linkage disequilibrium. Only 1.6% of the 669 donors genotyped were discordant for these three polymorphisms. The allele frequencies (cases: controls) were for intron 9 PAT+ 41.7%:36.9%, for intron 11 –6A 41.8%:37.0% and for exon 15 2920C 41.3%:37.3%. Using multivariate logistic regression analyses to control for age, skin type and number of nevi, the three polymorphisms were significantly associated with increased risks of melanoma: OR 1.87 (95% CI: 1.10–3.19; P = 0.022), OR 1.83 (95% CI: 1.07–3.11; P = 0.026), and OR 1.82 (95% CI: 1.07–3.08; P = 0.026), respectively. Exploratory multivariate analyses of distinct subgroups revealed that these polymorphisms were associated with increased risks for the development of multiple primary melanomas (n = 28). The results of our case–control study support the hypothesis that the intron 9 PAT+, intron 11 –6A and exon 15 2920C haplotype may contribute to the risk of developing cutaneous melanoma by increasing the rate of an alternatively spliced XPC mRNA isoform that skips exon 12 and leads to reduced DNA repair. Our results should be validated in independent samples in order to guard against false positive findings.


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