eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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1/2018
vol. 69
 
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abstract:
Original paper

Single nucleotide polymorphisms of XRCC3 gene in hepatocellular carcinoma – relationship with clinicopathological features

Elena-Roxana Avadanei, Simona-Eliza Giusca, Lucian Negura, Irina-Draga Caruntu

Pol J Pathol 2018; 69 (1): 73-81
Online publish date: 2018/05/07
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Recent studies support the involvement of XRCC3 gene polymorphisms in carcinogenesis. Our study focuses on the identification of polymorphic variants of XRCC3 in hepatocellular carcinoma (HCC) and an analysis of the relationship between these polymorphic variants and clinicopathological (including the genotype specific risk) and survival characteristics. Fifty cases of HCC were genotyped using molecular biology techniques for Thr241Met, rs861539 (c.722C>T) and 5’-UTR, rs1799796 (c.562-14A>G) polymorphisms. Statistical analysis was based on 2, Fisher’s, logistic regression (odd ratio – OR), and log-rank tests. Statistically significant differences were shown only for rs1799796 A>G and tumour grade, between wild type (AA) and heterozygote (AG) genotypes, and wild type (AA) and heterozygote & homozygote (AG & GG) genotypes. The logistic regression analysis found an OR of rs1799796 polymorphism occurrence in HCC related to tumour grade. The statistical analysis revealed, for the rs861539 C>T polymorphism, a better survival only for the homozygote genotype (TT) compared to the heterozygote (CT), and for rs1799796 A>G polymorphism, a longer survival for the wild type (AA) compared to heterozygote (AG) and to heterozygote & homozygote (AG & GG) genotypes, respectively. Our results suggest that XRCC3 gene SNPs could influence the tumour aggressiveness expressed by tumour grade.
keywords:

XRCC3 gene, single nucleotide polymorphism, hepatocellular carcinoma, tumour grade, survival

references:
Bray F, Ren JS, Masuyer E, Ferlay J. Global estimates of cancer prevalence for 27 sites in the adult population in 2008. Int J Cancer 2013; 132: 1133-1145.
El-Serag HB, Rudolph KL. Hepatocellular carcinoma: epidemiology and molecular carcinogenesis. Gastroenterol 2007; 132: 2557-2576.
Ji RB, Qian YS, Hu AR, et al. DNA repair gene XRCC3 T241M polymorphism and susceptibility to hepatocellular carcinoma in a Chinese population: a meta-analysis. Genet Mol Res 2014; 14: 15988-15995.
Lavanchy D. Hepatitis B virus epidemiology, disease burden, treatment, and current and emerging prevention and control measures. J Viral Hepat 2004; 11: 97-107.
Bowen GD, Walker CM. Mutation escape from CD8+T cell immunity HCV evolution, from chimpanzees to man. J Exp Med 2012; 11: 1709-1714.
Niwa Y, Matsuo K, Ito H, et al. Association of XRCC1 Arg399Gln and OGG1 Ser326Cys polymorphisms with the risk of cervical cancer in Japanese subjects. Gynecol Oncol 2005; 99: 43-49.
Noureddin M, Rinella ME. Nonalcoholic fatty liver disease, diabetes, obesity, and hepatocellular carcinoma. Clin Liver Dis 2015; 19: 361-379.
Akkiz H, Kuran S, Akgöllü E, et al. The role of interleukin 28B gene polymorphism in Turkish patients with hepatocellular carcinoma. Ann Hepatol 2013; 13: 788-795.
Smith TR, Miller MS, Lohman K, et al. Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Lett 2003; 190: 183-190.
Ronen A, Glickman WB. Human DNA repair genes. Environ Mol Mutagen 2001; 37: 241-283.
Tebbs RS, Zhao Y, Tucker JD, et al. Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene. Proc Natl Acad Sci USA 1995; 92: 6354-6358.
Au W, Salama S, Sierra-Torres C. Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays. Environ Health Perspect 2003; 111: 1843-1850.
Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 1998; 58: 604-608.
Matullo G, Guarrera S, Carturan S, et al. DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer 2001; 92: 562-567.
Bishop DK, Ear U, Bhattacharyya A, et al. Xrcc3 is required for assembly of Rad51 complexes in vivo. J Biol Chem 1998; 273: 21482-21488.
Schild D, Lio YC, Collins DW, et al. Evidence for simultaneous protein interactions between human Rad51 paralogs. J Biol Chem 2000; 275: 16443-16449.
Brenneman MA, Weiss AE, Nickoloff JA, et al. XRCC3 is required for efficient repair of chromosome breaks by homologous recombination. Mutation Res 2000; 459: 89-97.
Brenneman MA, Wagener BM, Miller CA, et al. XRCC3 controls the fidelity of homologous recombination: roles for XRCC3 in late stages of recombination. Mol Cell 2002; 10: 387-395.
Liu Q, Li MZ, Leibham D, Cortez D, et al. The univector plasmid-fusion system, a method for rapid construction of recombinant DNA without restriction enzymes. Curr Biol 1998; 8: 1300-1309.
Huang JY, Yang JF, Qu Q, et al. DNA repair gene XRCC3 variants are associated with susceptibility to glioma in a Chinese population. Genet Mol Res 2015; 14: 10569-10575.
Mills KD, Ferguson DO, Alt FW. The role of DNA breaks in genomic instability and tumorigenesis. Immunol Rev 2003; 194: 77-95.
Valerie K, Povirk LF. Regulation and mechanisms of mammalian double-strand break repair. Oncogene 2003; 22: 5792-5812.
Cahill D, Connor B, Carney JP. Mechanisms of eukaryotic DNA double strand break repair. Front Biosci 2006; 11: 1958-1976.
Avaˇdaˇnei R, Amalinei C, Giusca S, et al. Polymorphism of DNA repair genes XRCC1 and XRCC3 and hepatocellular carcinoma risk in Romanian population. Virchows Arch 2015; 467: 227.
Verslype C, Rosmorduc O, Rougier P. Hepatocellular carcinoma: ESMO-ESDO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2012; 23: 41-48.
Montalto G, Cervello M, Giannitrapani L, et al. Epidemiology, risk factors, and natural history of hepatocellular carcinoma. Ann N Y Acad Sci 2002; 963: 13-20.
Llovet JM, Burroughs A, Bruix J. Hepatocellular carcinoma. Lancet 2003; 362: 1907-1917.
Liu R, Yin LH, Pu YP. Reduced expression of human DNA repair genes in esophageal squamous-cell carcinoma in china.
J Toxicol Environ Health A 2007; 70: 956-963.
Bradbury PA, Kulke MH, Heist RS, et al. Cisplatin pharmacogenetics, DNA repair polymorphisms, and esophageal cancer outcomes. Pharmacogenet Genomics 2009; 19: 613-625.
Yan L, Yanan D, Donglan S, et al. Polymorphisms of XRCC1 gene and risk of gastric cardiac adenocarcinoma. Dis Esophagus 2009; 22: 396-401.
Fang F, Wang J, Yao L, et al. Relationship between XRCC3 T241M polymorphism and gastric cancer risk: a meta-analysis. Med Oncol 2011; 28: 999-1003.
Economopoulos KP, Sergentanis TN. XRCC3 Thr241Met polymorphism and breast cancer risk: a metaanalysis. Breast Cancer Res Treat 2010; 121: 439-443.
Yin J, Wang C, Liang D, et al. No evidence of association between the synonymous polymorphisms in XRCC1 and ERCC2 and breast cancer susceptibility among nonsmoking Chinese. Gene 2012; 503: 118-122.
Romanowicz-Makowska H, Bryś M, Forma E, et al. Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women. Polish J Pathol 2012; 63: 121-125.
Mohammed Ali A, AbdulKareem H, Al Anazi M, et al. Polymorphisms in DNA repair gene XRCC3 and susceptibility to breast cancer in Saudi females. Biomed Res Int 2016; 2016: 1-9.
Jiang Z, Li C, Xu Y, et al. A meta-analysis on XRCC1 and XRCC3 polymorphisms and colorectal cancer risk. Int J Colorectal Dis 2010; 25: 169-180.
Slyskova J, Naccarati A, Pardini B, et al. Differences in nucleotide excision repair capacity between newly diagnosed colorectal cancer patients and healthy controls. Mutagenesis 2012; 27: 225-232.
Zhao Y, Deng X, Wang Z, et al. Genetic polymorphisms of DNA repair genes XRCC1 and XRCC3 and risk of colorectal cancer in Chinese population. Asian Pac J Cancer Prev 2012; 13: 665-669.
Sun H, Qiao Y, Zhang X, et al. XRCC3 Thr241Met polymorphism with lung cancer and bladder cancer: a meta-analysis. Cancer Sci 2010; 101: 1777-1782.
Yuan C, Liu X, Yan S, et al. Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk. Biomed Res Int 2014; 2014: 648137.
Yan L, Li Q, Li X, et al. Association studies between XRCC1, XRCC2, XRCC3 polymorphisms and differentiated thyroid carcinoma. Cell Physiol Biochem 2016; 38: 1075-1084.
Mandal RK, Gangwar R, Kapoor R, et al. Polymorphisms in base-excision & nucleotide-excision repair genes & prostate cancer risk in north Indian population. Indian J Med Res 2012; 135: 64-71.
Long XD, Ma Y, Deng ZL, et al. Association of the Thr241Met polymorphism of DNA repair gene XRCC3 with genetic susceptibility to AFB1-related hepatocellular carcinoma in Guangxi population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008; 25: 268-271.
Long XD, Ma Y, Qu de Y, et al. The polymorphism of XRCC3 codon 241 and AFB1-related hepatocellular carcinoma in Guangxi population, China. Ann Epidemiol 2008; 18: 572-578.
Han X, Xing Q, Li Y, et al. Study on the DNA repair gene XRCC1 and XRCC3 polymorphism in prediction and prognosis of hepatocellular carcinoma risk. Hepatogastroenterol 2012; 59: 2285-2289.
Guo LY, Jin XP, Niu W, et al. Association of XPD and XRCC1 genetic polymorphisms with hepatocellular carcinoma risk. Asian Pac J Cancer Prev 2012; 13: 4423-4426.
Liu C, Wang H. XRCC3 T241M polymorphism is associated risk of hepatocellular carcinoma in the Chinese. Tumor Biol 2013; 34: 2249-2254.
Duan C, Zhang W, Lu J, et al. DNA repair gene XRCC3 Thr241Met polymorphism and hepatocellular carcinoma risk. Tumour Biol 2013; 34: 2827-2834.
Wu D, Jiang H, Yu H, et al. Significant association between XRCC3 C241T polymorphism and increased risk of hepatocellular carcinoma: a meta-analysis. Tumour Biol 2013; 34: 3865-3869.
Luo HC, Zhang HB, Xin XJ, et al. Haplotype-based case-control study of DNA repair gene XRCC3 and hepatocellular carcinoma risk in a Chinese population. Tumour Biol 2014; 35: 3415-3419.
Zhou K, Liu Y, Zhang H, et al. XRCC3 haplotypes and risk of gliomas in a Chinese population: a hospital based case-control study. Int J Cancer 2009; 124: 2948-2953.
Winsey SL, Haldar NA, Marsh HP, et al. A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 2000; 60: 5612-5616.
Kuschel B, Auranen A, McBride S, et al. Variants in DNA double-strand break repair gene and breast cancer susceptibility. Hum Mol Genet 2002; 11: 1399-1407.
Qiu LX, Mao C, Yao L, et al. XRCC3 5’-UTR and IVS5-14 polymorphisms and breast cancer susceptibility: a meta-analysis. Breast Cancer Res Treat 2010; 122: 489-493.
Han S, Zhang HT, Wang Z, et al. DNA repair gene XRCC3 polymorphisms and cancer risk: a meta-analysis of 48 case-control studies. Eur J Hum Genet 2006; 14: 1136-1144.
Iancu LS, Ling R, Moraru E, et al. Hepatitis B virus precore sequences in Romanian children with chronic infections. Rev Med Chir Soc Med Nat Ias¸i 2000; 104: 113-123.
Preda CM, Popescu CP, Baicus C, et al. Real world efficacy and safety of ombitasvir, paritaprevir/r+dasabuvir+ribavirin in genotype 1B patients with HCV liver cirrhosis. Liver Int 2018; 38: 602-610.
Azoicaˇi AN, Moraru E, Duca E, et al. Trends in epidemiological evolution of viral hepatitis B and C, in children, Romania and Ias¸i county between 1990-2009. Rev Med Chir Soc Med Nat Ias¸i 2010; 114: 731-737.
Gheorghe L, Csiki IE, Iacob S, et al. The prevalence and risk factors of hepatitis C virus infection in adult population in Romania: a nationwide survey 2006 – 2008. J Gastrointestin Liver Dis 2010; 19: 373-379.
Hahné SJM, Veldhuijzen IK, Wiessing L, et al. Infection with hepatitis B and C virus in Europe: a systematic review of prevalence and cost-effectiveness of screening. BMC Infect Dis 2013; 13: 181.
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