title: Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin.
abstract: BACKGROUND
  Mutations in nucleotide excision repair (NER) genes are the cause of xeroderma pigmentosum, a genetic syndrome with proneness to basal cell carcinoma (BCC) of the skin. Single nucleotide polymorphisms (SNPs) may affect the effectiveness of DNA repair and hence influence individual susceptibility to a variety of neoplasms. The aim of this study was to find associations between SNPs in selected NER genes and sporadic BCC development.
  
  
  METHODS
  The study group consisted of 100 patients with histopathologically confirmed BCCs and the control group of 100 elderly individuals with no personal history of any cancer. DNA isolated from peripheral blood lymphocytes was genotyped for seven SNPs in five different NER genes. Statistical analyses for associations were performed.
  
  
  RESULTS
  A weak association between XPD exon 6 silent C/A polymorphism and BCC development risk was found when comparing single polymorphisms between the two groups. When considering sex and SNPs, men with the A-allele in XPC intron 11 C/A have been found to have a decreased risk of BCC.
  
  
  CONCLUSIONS
  There is no consistency in association studies between SNPs and BCC susceptibility. SNPs in NER genes seem to have an insignificant influence on the risk of developing BCC of the skin.
authors.affiliation: Department of Genetics, Wroclaw Medical University, Wroclaw, Poland; Department of Dermatology, Venerology and Allergology, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: Karolina A
authors.initials: KA
authors.lastname: Pesz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Bieniek
authors.forename: Justyna
authors.initials: J
authors.lastname: Gil
authors.forename: Izabela
authors.initials: I
authors.lastname: Laczmanska
authors.forename: Pawel
authors.initials: P
authors.lastname: Karpinski
authors.forename: Izabela
authors.initials: I
authors.lastname: Makowska
authors.forename: Alicja
authors.initials: A
authors.lastname: Trusewicz
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sasiadek
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002280:Basal Cell Carcinoma / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*