Affiliations: [a] Department of Histology, University of Medicine and Pharmacy Tirgu Mures, Romania | [b] Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, Romania | [c] Department of Urology, University of Medicine and Pharmacy Tirgu Mures, Romania | [d] Department of Epidemiology, University of Medicine and Pharmacy Tirgu Mures, Romania
Correspondence:
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Corresponding author: Claudia Bănescu, Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, 38 Gh Marinescu St, 540139, Tirgu Mures, Romania. Tel.: +40 265 215551 extension 184; Fax: +40 365 814927; E-mail:claudia.banescu@gmail.com
Abstract: INTRODUCTION: In the last decade, an increasing number of
polymorphisms in DNA repair genes have been identified and their involvement
in carcinogenesis was studied. Despite the fact that XRCC3 and XPD DNA repair genes
association with several types of cancer was widely studied, their role in
the development of clear cell renal cell carcinoma (CCRCC) has not been
established in the European population. OBJECTIVE: The objective of this study was to investigate the
association of XRCC3 Thr241Met and XPD Lys751Gln gene polymorphisms with the risk of
CCRCC and the association between these genotypes and CCRCC
histopathological prognostic factors (pathologic stage, Fuhrman grade, tumor
diameter). METHODS: This study included 73 patients with CCRCC and 100 healthy
individuals without cancer. We used the PCR-RFLP method to determine XRCC3 and
XPD genotypes. RESULTS: The XPD 751 variant genotype (Lys/Gln) was more frequent
in CCRCC patients than in healthy individuals (OR = 2.92, 95%CI: 1.47-5.79,
p= 0.001). Regarding the XRCC3 Thr241Met/XPD Lys751Gln combined genotypes a significant
difference was found between patients and controls for Thr/Thr+Lys/Gln
(OR = 5.44, 95%CI: 2.09-14.15, p= 0.0003) and for Thr/Met+Gln/Gln (OR = 11.2, 95%CI: 1.95-100.4, p= 0.01).No association was found between any of the studied genotypes and
histopathological prognostic factors of CCRCC. CONCLUSIONS: Our findings indicate that XPD Lys751Gln polymorphism may
be a risk factor for CCRCC. Regarding the XRCC3 Thr241Met polymorphism, an
association with CCRCC was found only in XRCC3 Thr241Met/XPD Lys751Gln combined
genotypes.
