title: Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma.
abstract: OBJECTIVE
  We examined the influence of XPC A2920C, XPF T30028C, TP53 Arg72Pro and GSTP1 Ile105Val polymorphisms in the risk of cutaneous melanoma (CM).
  
  
  METHODS
  DNA from 146 CM patients and 146 controls was analysed by polymerase chain reaction (PCR)--restriction fragment length polymorphism (RFLP).
  
  
  RESULTS
  The frequencies of XPC CC (15.1 vs. 6.9 %, P = 0.02), TP53 ArgArg (59.6 vs. 45.9 %, P = 0.02), XPC CC plus TP53 ArgArg (19.7 vs. 5.2 %, P = 0.01) and TP53 ArgArg plus GSTP1 IleIle (50.7 vs. 35.6 %, P = 0.03) genotypes were higher in patients than in controls. Carriers of the respective genotypes were under a 2.51 (95 % CI: 1.13-5.55), 1.76 (95 % CI: 1.09-2.83), 4.52 (95 % CI: 1.35-15.16), and 2.01 (95 % CI: 1.04-3.90)-fold increased risks for CM than others, respectively. An excess of TP53 ArgArg genotype was seen in patients with excessive sun exposure compared to patients with standard sun exposure (69.2 vs. 44.1 %, P = 0.02) and also compared to controls (69.2 vs. 45.9 %, P = 0.002). Individuals with TP53 ArgArg genotype and highly exposed to sunlight had 2.65 (95 % CI: 1.42-4.92)-fold increased risk for CM than others. XPC CC (27.8 vs. 10.4 %, P = 0.02) and the GSTP1 IleIle (58.3 vs. 36.8 %, P = 0.04) genotypes were more common in patients with advanced tumours than in patients with localized tumours and were also more common in these patients than in controls (27.8 vs. 6.9 %, P = 0.001; 58.3 vs. 37.0 %, P = 0.02, respectively). Individuals with the respective genotypes had 5.23 (95 % CI: 1.97-13.82)-fold and 2.38 (95 % CI: 1.13-5.01)-fold increased risks for advanced tumour than others, respectively.
  
  
  CONCLUSIONS
  Our data suggest that inherited abnormalities of XPC, XPF, TP53 and GSTP1 pathways of the DNA repair, apoptosis and metabolism of reactive oxygen species are important determinants of CM in individuals from south-eastern Brazil.
authors.affiliation: Clinical Oncology Service, Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Rua Alexander Fleming, 181, Cidade Universitária Zeferino Vaz, Distrito de Barão Geraldo, Campinas, SP CEP 13083-970, Brazil.
authors.forename: Cristiane
authors.initials: C
authors.lastname: Oliveira
authors.forename: José Augusto
authors.initials: JA
authors.lastname: Rinck-Junior
authors.forename: Gustavo Jacob
authors.initials: GJ
authors.lastname: Lourenço
authors.forename: Aparecida Machado
authors.initials: AM
authors.lastname: Moraes
authors.forename: Carmen Silvia Passos
authors.initials: CS
authors.lastname: Lima
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D017209:Apoptosis; D016022:Case-Control Studies; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D051549:Glutathione S-Transferase pi / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C095888:xeroderma pigmentosum group F protein; C086984:XPC protein, human; C496556:GSTP1 protein, human; D051549:Glutathione S-Transferase pi