XPC gene variants: a risk factor for recurrence of urothelial bladder carcinoma in patients on BCG immunotherapy

Purpose 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. Materials and methods Genotyping was performed in 208 BC patients and 245 controls by PCR-RFLP method. Resu...

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Veröffentlicht in:Journal of cancer research and clinical oncology 2010-05, Vol.136 (5), p.779-786
Hauptverfasser: Gangwar, Ruchika, Mandhani, Anil, Mittal, Rama Devi
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Sprache:eng
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Zusammenfassung:Purpose 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. Materials and 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). Conclusion 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.
ISSN:0171-5216
1432-1335
DOI:10.1007/s00432-009-0717-y