Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.
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AuthorsThirumaran, Ranjit Kumar
Bermejo, Justo Lorenzo
Leonardi, Giovanni S.
MetadataShow full item record
AbstractIn addition to environmental exposures like UV radiation and, in some cases, arsenic contamination of drinking water, genetic factors may also influence the individual susceptibility to basal cell carcinoma of skin (BCC). In the present study, 529 cases diagnosed with BCC and 533 controls from Hungary, Romania and Slovakia were genotyped for one polymorphism in each of seven DNA repair genes. The variant allele for T241M (C>T) polymorphism in the XRCC3 gene was associated with a decreased cancer risk [odds ratio (OR), 0.73; 95% confidence interval (CI), 0.61-0.88; P = 0.0007, multiple testing corrected P = 0.004]. The risk of multiple BCC was significantly lower among variant allele carriers than in non-carriers (P = 0.04). Men homozygous for the C-allele for E185Q (G>C) polymorphism in the NBS1 gene showed an increased BCC risk (OR, 2.19; 95% CI, 1.23-3.91), but not women (OR, 0.84; 95% CI, 0.49-1.47). In men, the age and nationality adjusted OR for the genotype CC (XRCC3)/CC (NBS1) was 8.79 (95% CI, 2.10-36.8), compared with the genotype TT (XRCC3)/GG (NBS1). The data from this study show overall risk modulation of BCC by variant allele for T241M polymorphism in XRCC3 and gender-specific effect by E185Q polymorphism in NBS1.
CitationCarcinogenesis 2006, 27 (8):1676-1681
DescriptionBiomarkers of individual susceptibility: field studiesBiomarker (including alleles if genetic): XPC(A>C;K939Q), XPD(A>C;K715Q), XPG(G>C;D1104H), APEX1(T>G;D148E), XRCC1(G>A;R399Q), XRCC3(C>T;T241M), NBS1(G>C;E185Q)Effect studied (phenotype/pathology):modulation of BCC riskTissue/biological material/sample size: BLOODMethod of analysis: PCRStudy design: case-controlStudy size: 529 subjects with BCC, 533 controlsImpact on outcome (including dose-response): XRCC3(C>T;T241M) decreased risk for BCC, PR 0.66, CI95%, 0.51-0.86, P=0.002NBS1(G>C;E185Q) increased risk for BCC in men OR1.44, CI95%, 1.1-1.88, P=0.008, not in women OR0.96, CI95%, 0.74-1024, P=0.76All other polymorphisms no correlation found with risk. KEYWORDS CLASSIFICATION: adverse effects;Adolescent;Adult;Aged;Aged,80 and over;biomarkers of individual susceptibility: field studies;cancer epidemiology;Carcinoma,Basal Cell;Case-Control Studies;Cell Cycle;Cell Cycle Proteins;Child;Child,Preschool;DNA Repair;epidemiology;Female;genetics;Genetic Predisposition to Disease;Genotype;Germany;Humans;Hungary;Male;Middle Aged;Neoplasm Proteins;Nuclear Proteins;Odds Ratio;Polymorphism,Single Nucleotide;Proteins;Research;Risk Factors;Romania;Skin Neoplasms;Slovakia;Ultraviolet Rays.