title: XPC gene variants: a risk factor for recurrence of urothelial bladder carcinoma in patients on BCG immunotherapy.
abstract: OBJECTIVE
  To investigate the association between two Xeroderma pigmentosum group C polymorphism (XPC Lys939Gln and insertion/deletion PAT -/+ in intron 9) and bladder cancer (BC) susceptibility.
  
  
  METHODS
  Genotyping was performed in 208 BC patients and 245 controls by PCR-RFLP method.
  
  
  RESULTS
  XPC PAT +/+ genotype was associated with elevated risk of BC (p = 0.021, OR = 2.49). XPC Lys939Gln AC + CC genotype was significantly associated with risk in invasive stage of BC (p = 0.041, OR = 2.52). Haplotype analysis revealed that variant genotypes C of XPC Lys939Gln and + of PAT, C+ were significantly associated with risk of BC (p = 0.004, OR = 1.70). The CC genotype of Lys939Gln was associated with high risk for recurrence in BCG-treated patients (HR = 3.21, p = 0.036) thus, showing reduced recurrence-free survival (AC + CC/AA = 36/60 months; log rank p = 0.045).
  
  
  CONCLUSIONS
  Polymorphisms and haplotypes in XPC appear to influence susceptibility to BC risk. The variant C allele at Lys939Gln may be responsible for early recurrence in BCG-treated patients.
authors.affiliation: Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: Ruchika
authors.initials: R
authors.lastname: Gangwar
authors.forename: Anil
authors.initials: A
authors.lastname: Mandhani
authors.forename: Rama Devi
authors.initials: RD
authors.lastname: Mittal
mesh_terms: D017668:Age of Onset; D001500:BCG Vaccine / Q000627:therapeutic use*; D002295:Carcinoma, Transitional Cell / Q000235:genetics* / Q000628:therapy*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000628:therapy*
chemical_list: D001500:BCG Vaccine; D004268:DNA-Binding Proteins; C086984:XPC protein, human