RT Journal Article SR Electronic T1 The Role of XRCC6 T-991C Functional Polymorphism in Renal Cell Carcinoma JF Anticancer Research JO Anticancer Res FD International Institute of Anticancer Research SP 3855 OP 3860 VO 32 IS 9 A1 WEN-SHIN CHANG A1 HUNG-LUNG KE A1 CHIA-WEN TSAI A1 CHI-SHUN LIEN A1 WEN-LING LIAO A1 HUI-HUI LIN A1 MENG-HSUAN LEE A1 HSI-CHIN WU A1 CHAO-HSIANG CHANG A1 CHI-CHENG CHEN A1 HONG-ZIN LEE A1 DA-TIAN BAU YR 2012 UL http://ar.iiarjournals.org/content/32/9/3855.abstract AB Background: The DNA non-homologous end-joining repair gene XRCC6 (Ku70) plays a key role in both the DNA double-strand break (DSB) repair and cell cycle arrest. Defects in DSB repair capacity can lead to genomic instability. We hypothesized that a variant in the XRCC6 gene was associated with susceptibility to renal cell carcinoma (RCC). Materials and Methods: In a hospital-based case–control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population. At the same time, 30 adjacent renal tissue samples were tested to estimate the XRCC6 mRNA expression by real-time quantitative reverse transcription. Results: Compared with the TT genotype, the TC genotype had a significantly increased risk of RCC [adjusted odds ratio=2.24, 95% confidence interval=1.25-4.08, p=0.0175]. The in vivo mRNA expression in renal tissues revealed a statistically significant lower XRCC6 mRNA expression in samples with TC/CC genotypes compared to those with the TT genotype (p=0.0039). Conclusion: These evidence suggests that the XRCC6 T-991C genotype together with its mRNA expression are involved in the etiology of RCC and may be a marker for susceptibility to RCC in the population of Taiwan.