title: Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.
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.
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.
authors.forename: Ranjit Kumar
authors.initials: RK
authors.lastname: Thirumaran
authors.forename: Justo Lorenzo
authors.initials: JL
authors.lastname: Bermejo
authors.forename: Peter
authors.initials: P
authors.lastname: Rudnai
authors.forename: Eugene
authors.initials: E
authors.lastname: Gurzau
authors.forename: Kvetoslava
authors.initials: K
authors.lastname: Koppova
authors.forename: Walter
authors.initials: W
authors.lastname: Goessler
authors.forename: Marie
authors.initials: M
authors.lastname: Vahter
authors.forename: Giovanni S
authors.initials: GS
authors.lastname: Leonardi
authors.forename: Felicity
authors.initials: F
authors.lastname: Clemens
authors.forename: Tony
authors.initials: T
authors.lastname: Fletcher
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kumar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002280:Basal Cell Carcinoma / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012383:Romania / Q000453:epidemiology; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018154:Slovakia / Q000453:epidemiology; D014466:Ultraviolet Rays / Q000009:adverse effects
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins