Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.

2.50
Hdl Handle:
http://hdl.handle.net/10146/56494
Title:
Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.
Authors:
Thirumaran, Ranjit Kumar; Bermejo, Justo Lorenzo; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Goessler, Walter; Vahter, Marie; Leonardi, Giovanni S.; Clemens, Felicity; Fletcher, Tony; Hemminki, Kari; Kumar, Rajiv
Abstract:
In 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.
Citation:
Carcinogenesis 2006, 27 (8):1676-1681
Journal:
Carcinogenesis
Issue Date:
Aug-2006
URI:
http://hdl.handle.net/10146/56494
DOI:
10.1093/carcin/bgi381
PubMed ID:
16501254
Additional Links:
http://carcin.oxfordjournals.org/cgi/content/full/27/8/1676
Type:
Article
Language:
en
Description:
Biomarkers 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.
ISSN:
0143-3334
Appears in Collections:
Articles with annotation

Full metadata record

DC FieldValue Language
dc.contributor.authorThirumaran, Ranjit Kumar-
dc.contributor.authorBermejo, Justo Lorenzo-
dc.contributor.authorRudnai, Peter-
dc.contributor.authorGurzau, Eugene-
dc.contributor.authorKoppova, Kvetoslava-
dc.contributor.authorGoessler, Walter-
dc.contributor.authorVahter, Marie-
dc.contributor.authorLeonardi, Giovanni S.-
dc.contributor.authorClemens, Felicity-
dc.contributor.authorFletcher, Tony-
dc.contributor.authorHemminki, Kari-
dc.contributor.authorKumar, Rajiv-
dc.date.accessioned2009-03-20T07:50:47Z-
dc.date.available2009-03-20T07:50:47Z-
dc.date.issued2006-08-
dc.identifier.citationCarcinogenesis 2006, 27 (8):1676-1681en
dc.identifier.issn0143-3334-
dc.identifier.pmid16501254-
dc.identifier.doi10.1093/carcin/bgi381-
dc.identifier.urihttp://hdl.handle.net/10146/56494-
dc.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.en
dc.description.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.en
dc.language.isoenen
dc.relation.urlhttp://carcin.oxfordjournals.org/cgi/content/full/27/8/1676en
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshAged, 80 and over-
dc.subject.meshCarcinoma, Basal Cell-
dc.subject.meshCase-Control Studies-
dc.subject.meshCell Cycle Proteins-
dc.subject.meshChild-
dc.subject.meshChild, Preschool-
dc.subject.meshDNA Repair-
dc.subject.meshFemale-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshHungary-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshNeoplasm Proteins-
dc.subject.meshNuclear Proteins-
dc.subject.meshOdds Ratio-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.subject.meshRisk Factors-
dc.subject.meshRomania-
dc.subject.meshSkin Neoplasms-
dc.subject.meshSlovakia-
dc.subject.meshUltraviolet Rays-
dc.titleSingle nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.en
dc.typeArticleen
dc.identifier.journalCarcinogenesisen

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