A functional −77T>C polymorphism in XRCC1 is associated with risk of breast cancer (original) (raw)
References
Boyle P, Levin B (2008) World cancer report 2008. IARC, Lyon Google Scholar
Smigal C, Jemal A, Ward E, Cokkinides V, Smith R, Howe HL, Thun M (2006) Trends in breast cancer by race and ethnicity: update 2006. CA Cancer J Clin 56:168–183 ArticlePubMed Google Scholar
Fan L, Zheng Y, Yu KD, Liu GY, Wu J, Lu JS, Shen KW, Shen ZZ, Shao ZM (2009) Breast cancer in a transitional society over 18 years: trends and present status in Shanghai, China. Breast Cancer Res Treat 117:409–416 ArticlePubMed Google Scholar
Wang QJ, Zhu WX, Xing XM (2006) Analysis of the incidence and survival of female breast cancer in Beijing during the last 20 years. Zhonghua Zhong Liu Za Zhi 28:208–210 PubMed Google Scholar
Yang L, Li LD, Chen YD, Parkin DM (2006) Time trends, estimates and projects for breast cancer incidence and mortality in China. Zhonghua Zhong Liu Za Zhi 28:438–440 PubMed Google Scholar
Kirova YM, Savignoni A, Sigal-Zafrani B, de La Rochefordiere A, Salmon RJ, This P, Asselain B, Stoppa-Lyonnet D, Fourquet A (2010) Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature. Breast Cancer Res Treat 120:119–126 ArticlePubMed Google Scholar
Moullan N, Cox DG, Angele S, Romestaing P, Gerard JP, Hall J (2003) Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12:1168–1174 CASPubMed Google Scholar
Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411:366–374 ArticleCASPubMed Google Scholar
Mitra S, Boldogh I, Izumi T, Hazra TK (2001) Complexities of the DNA base excision repair pathway for repair of oxidative DNA damage. Environ Mol Mutagen 38:180–190 ArticleCASPubMed Google Scholar
Cappelli E, Taylor R, Cevasco M, Abbondandolo A, Caldecott K, Frosina G (1997) Involvement of XRCC1 and DNA ligase III gene products in DNA base excision repair. J Biol Chem 272:23970–23975 ArticleCASPubMed Google Scholar
Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, Weinfeld M, Caldecott KW (2001) XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair. Cell 104:107–117 ArticleCASPubMed Google Scholar
Sterpone S, Cornetta T, Padua L, Mastellone V, Giammarino D, Testa A, Tirindelli D, Cozzi R, Donato V (2009) DNA repair capacity and acute radiotherapy adverse effects in Italian breast cancer patients. Mutat Res 684:43–48 PubMed Google Scholar
Giachino DF, Ghio P, Regazzoni S, Mandrile G, Novello S, Selvaggi G, Gregori D, DeMarchi M, Scagliotti GV (2007) Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer. Clin Cancer Res 13:2876–2881 ArticleCASPubMed Google Scholar
Ladiges W, Wiley J, MacAuley A (2003) Polymorphisms in the DNA repair gene XRCC1 and age-related disease. Mech Ageing Dev 124:27–32 ArticleCASPubMed Google Scholar
Shen MR, Jones IM, Mohrenweiser H (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604–608 CASPubMed Google Scholar
Narter KF, Ergen A, Agachan B, Gormus U, Timirci O, Isbir T (2009) Bladder cancer and polymorphisms of DNA repair genes (XRCC1, XRCC3, XPD, XPG, APE1, hOGG1). Anticancer Res 29:1389–1393 CASPubMed Google Scholar
Sturgis EM, Castillo EJ, Li L, Zheng R, Eicher SA, Clayman GL, Strom SS, Spitz MR, Wei Q (1999) Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis 20:2125–2129 ArticleCASPubMed Google Scholar
Duell EJ, Millikan RC, Pittman GS, Winkel S, Lunn RM, Tse CK, Eaton A, Mohrenweiser HW, Newman B, Bell DA (2001) Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev 10:217–222 CASPubMed Google Scholar
AC BC (2006) Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 98:1382–1396 Article Google Scholar
Hao B, Wang H, Zhou K, Li Y, Chen X, Zhou G, Zhu Y, Miao X, Tan W, Wei Q, Lin D, He F (2004) Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res 64:4378–4384 ArticleCASPubMed Google Scholar
Hao B, Miao X, Li Y, Zhang X, Sun T, Liang G, Zhao Y, Zhou Y, Wang H, Chen X, Zhang L, Tan W, Wei Q, Lin D, He F (2006) A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer. Oncogene 25:3613–3620 ArticleCASPubMed Google Scholar
Moshynska O, Moshynskyy I, Misra V, Saxena A (2005) G125A single-nucleotide polymorphism in the human BAX promoter affects gene expression. Oncogene 24:2042–2049 ArticleCASPubMed Google Scholar
Soule HD, Vazguez J, Long A, Albert S, Brennan M (1973) A human cell line from a pleural effusion derived from a breast carcinoma. J Natl Cancer Inst 51:1409–1416 CASPubMed Google Scholar
Ding K, Zhou K, He F, Shen Y (2003) LDA—a java-based linkage disequilibrium analyzer. Bioinformatics 19:2147–2148 ArticleCASPubMed Google Scholar
Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425–434 ArticlePubMed Google Scholar
Higgins JP, Thompson SG (2002) Quantifying heterogeneity in a meta-analysis. Stat Med 21:1539–1558 ArticlePubMed Google Scholar
Kong YJ, Sun WX, Zhang YM, Shi YZ (2008) Relationships between the expressions of intercellular adhesion molecule-1 and tissue inhibitor of metalloproteinase-1 and matrix metalloproteinase-9 in lung tissues of patients with chronic obstructive pulmonary disease. Zhonghua Jie He He Hu Xi Za Zhi 31:129–133 PubMed Google Scholar
Shu XO, Cai Q, Gao YT, Wen W, Jin F, Zheng W (2003) A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 12:1462–1467 CASPubMed Google Scholar
Jorgensen TJ, Helzlsouer KJ, Clipp SC, Bolton JH, Crum RM, Visvanathan K (2009) DNA repair gene variants associated with benign breast disease in high cancer risk women. Cancer Epidemiol Biomarkers Prev 18:346–350 ArticleCASPubMed Google Scholar
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225–2229 ArticleCASPubMed Google Scholar
Hu Z, Ma H, Lu D, Zhou J, Chen Y, Xu L, Zhu J, Huo X, Qian J, Wei Q, Shen H (2005) A promoter polymorphism (−77T>C) of DNA repair gene XRCC1 is associated with risk of lung cancer in relation to tobacco smoking. Pharmacogenet Genomics 15:457–463 ArticleCASPubMed Google Scholar
De Ruyck K, Szaumkessel M, De Rudder I, Dehoorne A, Vral A, Claes K, Velghe A, Van Meerbeeck J, Thierens H (2007) Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat Res 631:101–110 PubMed Google Scholar
Li M, Yin Z, Guan P, Li X, Cui Z, Zhang J, Bai W, He Q, Zhou B (2008) XRCC1 polymorphisms, cooking oil fume and lung cancer in Chinese women nonsmokers. Lung Cancer 62:145–151 ArticlePubMed Google Scholar
Sterpone S, Mastellone V, Padua L, Novelli F, Patrono C, Cornetta T, Giammarino D, Donato V, Testa A, Cozzi R (2010) Single-nucleotide polymorphisms in BER and HRR genes, XRCC1 haplotypes and breast cancer risk in Caucasian women. J Cancer Res Clin Oncol 136:631–636 ArticleCASPubMed Google Scholar
Brem R, Cox DG, Chapot B, Moullan N, Romestaing P, Gerard JP, Pisani P, Hall J (2006) The XRCC1 −77T>C variant: haplotypes, breast cancer risk, response to radiotherapy and the cellular response to DNA damage. Carcinogenesis 27:2469–2474 ArticleCASPubMed Google Scholar
Misteli T, Soutoglou E (2009) The emerging role of nuclear architecture in DNA repair and genome maintenance. Nat Rev Mol Cell Biol 10:243–254 ArticleCASPubMed Google Scholar
Yang M, Guo H, Wu C, He Y, Yu D, Zhou L, Wang F, Xu J, Tan W, Wang G, Shen B, Yuan J, Wu T, Lin D (2009) Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer risk. Hum Mutat 30:1320–1328 ArticleCASPubMed Google Scholar
Yu D, Zhang X, Liu J, Yuan P, Tan W, Guo Y, Sun T, Zhao D, Yang M, Liu J, Xu B, Lin D (2008) Characterization of functional excision repair cross-complementation group 1 variants and their association with lung cancer risk and prognosis. Clin Cancer Res 14:2878–2886 ArticleCASPubMed Google Scholar
Chan KY, Liu W, Long JR, Yip SP, Chan SY, Shu XO, Chua DT, Cheung AN, Ching JC, Cai H, Au GK, Chan M, Foo W, Ngan HY, Gao YT, Ngan ES, Garcia-Barcelo MM, Zheng W, Khoo US (2009) Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. J Med Genet 46:32–39 ArticleCASPubMed Google Scholar
Lu J, Zhang S, Chen D, Wang H, Wu W, Wang X, Lei Y, Wang J, Qian J, Fan W, Hu Z, Jin L, Shen H, Huang W, Wei Q, Lu D (2009) Functional characterization of a promoter polymorphism in APE1/Ref-1 that contributes to reduced lung cancer susceptibility. FASEB J 23:3459–3469 ArticleCASPubMed Google Scholar
Wang M, Wang M, Yuan L, Wu D, Zhang Z, Yin C, Fu G, Wei Q, Zhang Z (2010) A novel XPF −357A>C polymorphism predicts risk and recurrence of bladder cancer. Oncogene 29:1920–1928 ArticleCASPubMed Google Scholar
Tebbs RS, Flannery ML, Meneses JJ, Hartmann A, Tucker JD, Thompson LH, Cleaver JE, Pedersen RA (1999) Requirement for the Xrcc1 DNA base excision repair gene during early mouse development. Dev Biol 208:513–529 ArticleCASPubMed Google Scholar
Sak SC, Harnden P, Johnston CF, Paul AB, Kiltie AE (2005) APE1 and XRCC1 protein expression levels predict cancer-specific survival following radical radiotherapy in bladder cancer. Clin Cancer Res 11:6205–6211 ArticleCASPubMed Google Scholar
Kang CH, Jang BG, Kim DW, Chung DH, Kim YT, Jheon S, Sung SW, Kim JH (2009) Differences in the expression profiles of excision repair crosscomplementation group 1, x-ray repair crosscomplementation group 1, and betaIII-tubulin between primary non-small cell lung cancer and metastatic lymph nodes and the significance in mid-term survival. J Thorac Oncol 4:1307–1312 ArticlePubMed Google Scholar
Liu R, Yin LH, Pu YP (2007) Reduced expression of human DNA repair genes in esophageal squamous-cell carcinoma in china. J Toxicol Environ Health A 70:956–963 ArticleCASPubMed Google Scholar
Vineis P, Manuguerra M, Kavvoura FK, Guarrera S, Allione A, Rosa F, Di Gregorio A, Polidoro S, Saletta F, Ioannidis JP, Matullo G (2009) A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. J Natl Cancer Inst 101:24–36 CASPubMed Google Scholar
Saadat M, Ansari-Lari M (2009) Polymorphism of XRCC1 (at codon 399) and susceptibility to breast cancer, a meta-analysis of the literatures. Breast Cancer Res Treat 115:137–144 ArticleCASPubMed Google Scholar
Geng J, Zhang YW, Huang GC, Chen LB (2008) XRCC1 genetic polymorphism Arg399Gln and gastric cancer risk: a meta-analysis. World J Gastroenterol 14:6733–6737 ArticleCASPubMed Google Scholar
Naccarati A, Pardini B, Hemminki K, Vodicka P (2007) Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms. Mutat Res 635:118–145 ArticleCASPubMed Google Scholar