Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism

Mutat Res. 2005 Jul 1;574(1-2):105-11. doi: 10.1016/j.mrfmmm.2005.01.026. Epub 2005 Mar 26.


Basal cell carcinoma (BCC) is one of the most common neoplasms in the world and its incidence has been increasing worldwide in recent years. BCCs are caused by an interplay between genetic and environment factors. We conducted a case-control association study in BCC patients and controls from Sweden and Finland. Fifteen single nucleotide polymorphisms (SNPs), IL-6-174G/C, -634G/C, and -597G/A; IL-10-1082G/A and -592C/A; IL-1beta-511C/T; NBS1 exon 5 Glu185Gln; XPC exon 15 Lys939Gln; XPD exon 23 Lys751Gln; XRCC1 exon 10 Arg399Gln; XRCC3 exon 7 Thr241Met; cyclin D1 exon 4 G870A; MTHFR exon 4 Ala222Val and exon 7 Glu429Ala; HFE exon 4 C282Y were performed by Pyrosequencing and RFLP techniques. Most of the genotype distributions were in accordance with the Hardy-Weinberg equilibrium (HWE), except for IL-10-1082G/A, where cases with BCC showed a significant deviation from HWE (P = 0.04). Linkage disequilibrium was observed between the -174 and -597 alleles in the IL-6 gene in the present populations. No difference between BCC and controls appeared in any of the SNPs analyzed. Only the combined distributions of TT/AA genotypes in MTHFR exon 4 (C/T) and exon 7 (A/C) showed slight increase in BCC compared to controls (P < 0.07, OR: 1.94; 95% CI: 0.96-3.89).

MeSH terms

  • Carcinoma, Basal Cell / genetics*
  • Case-Control Studies
  • Cohort Studies
  • DNA Repair / genetics*
  • Folic Acid / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Interleukins / genetics*
  • Iron / metabolism
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Skin Neoplasms / genetics*


  • Interleukins
  • Folic Acid
  • Iron