XRCC1 polymorphism and lung cancer risk

Expert Review of Molecular Diagnostics

Volumn 8, Issue 6, 2008, Pages 761-780

  Schneider, Joachim ^a   Classen, Vera ^a   Helmig, Simone ^a  

^a UNIVERSITY HOSPITAL GIESSEN   (Germany)

Author keywords

DNA repair; Genotype distribution; Lung cancer; Smoking; XRCC1 polymorphism

Indexed keywords

CANCER RISK; CANCER SURVIVAL; CODON; ETHNIC GROUP; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; LUNG CANCER; REVIEW; SURVIVAL TIME; TOBACCO;

EID: 56049094384     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.8.6.761     Document Type: Review

References (83)

1. Thompson LH, West MG. XRCC1 keeps DNA from getting stranded. Mut. Res. 459, 1-18 (2000).
2. Kubota Y, Nash RA, Klunglund A, Schar P, Barnes DE, Lindahl T. Reconstitution of DNA base excision repair with purified human proteins: interaction between DNA polymerase β and XRCC1 protein. EMBO J. 15, 6662-6670 (1996).
3. Caldecott KW, McKeon CK, Tucker JD, Ljungquist S, Thompson LH. An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III. Mol. Cell. Biol. 14, 68-76 (1994).
4. Masson M, Niedergang C, Schreiber V, Müller S, DeMurcia JM, deMurcia G. XRCC1 is specially associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage. Mol. Cell. Biol. 18, 3563-3571 (1998).
5. Shen MR, Jones IM, Mohrenweiser H. No conservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 58, 604-608 (1998).
6. Duell EJ, Wiencke JK, Cheng T et al. Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis 21, 965-971 (2000).
7. Sturgis EM Castillo EJ, Li L et al. Polymorphsims of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis 20, 2125-2129 (1999).
8. Park JY, Lee SY, Jeon HS et al. Polymorphism of the DNA repair gene XRCC1 and risk of primary lung cancer. Cancer Epidemiol. Biomarkers Prev. 11, 23-27 (2002).
9. David-Beabes GL, London SJ. Genetic polymorphism of XRCC1 and lung cancer risk among African-Americans and Caucasians. Lung Cancer 34, 333-339 (2001).
10. Hao B, Wang H, Zhou K et al. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res. 64, 4378-4384 (2004).
11. Chen S, Tang D, Xue K et al. DNA repair gene XRCC1 and XPD polymorphisms and risk of lung cancer in a Chinese population. Carcinogenesis 23, 1321-1325 (2002).
12. De las Penas R, Sanchez-Ronco M, Alberola V et al. Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients. Ann. Oncol. 17, 668-675 (2006).
13. Ratnasinghe D, Yao SX, Tangrea JA et al. Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 10, 119-123 (2001).
14. Zienolddiny S, Campa D, Lind H et al. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis 27, 560-567 (2006).
15. Lee SG, Kim B, Choi J, Kim C, Lee I, Song K. Genetic polymorphisms of XRCC1 and risk of gastric cancer. Cancer Lett. 187, 53-60 (2002).
16. De Ruyck KD, Szaumkessel M, De Rudder I et al. Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat. Res. 631, 101-110 (2007).
17. Popanda O, Schattenberg T, Phong CT et al. Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. Carcinogenesis 25, 2433-2441 (2004).
18. Stern MC, Umbach DM, van Gils CH, Lunn RM, Taylor JA. DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev. 10, 125-131 (2001).
19. Seedhouse C, Bainton R, Lewis M, Harding A, Russel N, Das-Gupta E. The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related AML. Blood 100(10), 3761-3766 (2002).
20. Schneider J, Classen V, Bernges U, Philipp M. XRCC1 polymorphism and lung cancer risk in relation to tobacco smoking. Int. J. Mol. Med. 16, 709-716 (2005).
21. Matullo G, Dunning AM, Guarrera S et al. DNA repair polymorphisms and cancer risk in non-smokers in a cohort study. Carcinogenesis 27, 997-1007 (2006).
22. Yin J, Vogel U, Ma Y, Qi R, Sun Z, Wang H. The DNA repair gene XRCC1 and genetic susceptibility of lung cancer in a northeastern Chinese population. Lung Cancer 56, 153-160 (2007).
23. Misra RR, Ratnasinghe D, Tangrea JA et al. Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3 and APE/ref-1, and the risk of lung cancer among male smokers in Finland. Cancer Lett. 191, 171-178 (2003).
24. Divine KK, Gilliland FD, Crowell RE et al. The XRCC1399 glutamine allele is a risk factor for adenocarcinoma of the lung. Mutat. Res. 461, 273-278 (2001).
25. Pachouri SS, Sobti RC, Kaur P, Singh J. Contrasting impact of DNA repair gene XRCC1 polymorphisms Arg399Gln and Arg194Trp on the risk of lung cancer in North-Indian population. DNA Cell Biol. 26, 186-191 (2007).
26. Zhang X, Miao X, Liang G et al. Polymorphisms in DNA base excision repair genes ADPRT and XRCC1 and risk of lung cancer. Cancer Res. 65, 722-726 (2005).
27. Ito H, Matsuo K, Hamajima N et al. Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk. Carcinogenesis 25, 1395-1401 (2004).
28. Zhou W, Liu G, Miller DP et al. Polymorphisms in the DNA repair genes XRCC1 and ERCC2, smoking, and lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 12, 359-365 (2003).
29. Ryk C, Kumar R, Thirumaran RK, Hou SM. Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers. Lung Cancer 54, 285-292 (2006).
30. Sreeja L, Syamala VS, Syamala V et al. Prognostic importance of DNA repair gene polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln in lung cancer patients from India. J. Cancer Res. Clin. Oncol. 134, 645-652 (2008).
31. Giachino DF, Ghio P, Regazzoni S et al. Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer. Clin. Cancer Res. 13, 2876-2881 (2007).
32. Wang Z, Xu B, Lin D et al. XRCC1 polymorphisms and severe toxicity in lung cancer patients treated with cisplatin-based chemotherapy in Chinese population. Lung Cancer 62(1), 99-104 (2008).
33. Hung RJ, Hall J, Brennan P, Boffetta P. Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am. J. Epidemiol. 162, 925-942 (2005).
34. Ritchie MD, Hahn L W, Roodi N. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69, 138-147 (2003).
35. Ritchie MD, Hahn LW, Roodi N et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69, 138-147 (2001)
36. Bitterlich N, Schneider J. Odds-ratio-Analysen in Fall-Kontroll-Studien zur Risikoabschätzung bei Studien zu Genpolymorphismen. Arbeitsmed. Sozialmed. Umweltmed. 43, 166 (2008).
37. Manuguerra M, Matullo G, Veglia F et al. Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions. Carcinogenesis 28, 414-422 (2007).
38. Dianzani I, Gibello L, Biava A et al. Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study, Mutat. Res. 599, 124-134 (2006).
39. 1-DNA adducts and glycophorin A variant frequency. Cancer Res. 59, 2557-2561 (1999).
40. Abdel-Rahman SZ, Soliman AS, Bondy ML et al. Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt. Cancer Lett. 159, 79-86 (2000).
41. Shen H, Xu Y, Qian Y et al. Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population. Int. J. Cancer 88, 601-606 (2000).
42. 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. 60, 5612-5616 (2000).
43. Butkiewicz D, Rusin M, Enewold L, Shields PG, Chorazy M, Harris CC. Genetic polymorphisms in DNA repair genes and risk of lung cancer. Carcinogenesis 22, 593-597 (2001).
44. Duell EJ, Millikan RC, Pittman GS et al. Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol. Biomarkers Prev. 10, 217-222 (2001).
45. Lee JM, Lee YC, Yang SY et al. Genetic polymorphisms of XRCC1 and risk of esophageal cancer. Int. J. Cancer 95, 240-246 (2001).
46. 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 92, 562-567 (2001).
47. Hu JJ, Smith TR, Miller MS, Mohreweiser HW, Golden A, Case LD. Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis 22, 917-922 (2001).
48. Duell EJ, Holly EA, Bracci PM, Wiencke JK, Kelsey KT. A population-based study of the Arg399Gln polymorphism in x-ray repair cross-complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. Cancer Res. 62, 4630-4636 (2002).
49. Hamajima N, Takezaki T, Tajima K. Allele frequencies of 25 polymorphisms pertaining to cancer risk for Japanese, Koreans and Chinese. Asian Pac. J. Cancer Prev. 3, 197-206 (2002).
50. Kim SU, Park SK, Yoo KY et al. XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics 12, 335-338 (2002).
51. Nelson HH, Kelsey KT, Mott LA, Karagas MR. The XRCC1 Arg399Gln polymorphism, sunburn, and nonmelanoma skin cancer: evidence of gene-environment interaction. Cancer Res. 62, 152-155 (2002).
52. Olshan AF, Watson MA, Weissler MC, Bell DA. XRCC1 polymorphisms and head and neck cancer. Cancer Lett. 178, 181-186 (2002).
53. van Gils CH, Bostick RM, Stern M, Taylor JA. Differences in base excision repair capacity may modulate the effect of dietary antioxidant intake on prostate cancer risk: an example of polymorphisms in the XRCC1 gene. Cancer Epidemiol. Biomarkers Prev. 11, 1279-1284 (2002).
54. Wong RH, Du CL, Wang JD, Chan CC, Luo JCJ, Cheng TJ. XRCC1 and CYP2E1 polymorphisms as susceptibility factors of plasma mutant p53 protein and anti-p53 antibody expression in vinyl chloride monomer-exposed polyvinyl chloride workers. Cancer Epidemiol. Biomarkers Prev. 11, 475-482 (2002).
55. Xing D, Qi J, Miao X, Lu W, Tan W, Lin D. Polymorphisms of DNA repair genes XRCC1 and XPD and their associations with risk of eosophageal squamous carcinoma in a Chinese population. Int. J. Cancer 100, 600-605 (2002).
56. Cho EY, Hildesheim A, Chen CJ et al. Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1. Cancer Epidemiol. Biomarkers Prev. 12, 1100-1104 (2003).
57. Han J, Hankinson SE, De Vivo I et al. A prospective study of XRCC1 haplotypes and their interaction with plasma carotenoids on breast cancer risk. Cancer Res. 63, 8536-8541 (2003).
58. Moullan N, Cox DG, Angèle S, Romestaing P, Gérard JP, Hall J. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol. Biomarkers Prev. 12, 1168-1174 (2003).
59. Shen M, Hung RJ, Brennan P et al. Polymorphisms of the DNA repair genes XRCC1, XRCC3, XPD, interaction with environmental exposures, and bladder cancer risk in a case-control study in Northern Italy. Cancer Epidemiol. Biomarkers Prev. 12, 1234-1240 (2003).
60. Shu XO, Cai Q, Gao YT, Wen W, Jin F, Wei Z. 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 (2003).
61. Smith TR, Levine EA, Perrier ND et al. DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev. 12, 1200-1204 (2003).
62. Spitz MR, Wei Q, Dong Q, Amos CI, Wu X. Genetic susceptibility to lung cancer: the role of DNA damage and repair. Cancer Epidemiol. Biomarkers Prev. 12, 689-698 (2003).
63. Varzim G, Monteiro E, Silvia RA, Fernandes J, Lopes C. CYP1A1 and XRCC1 gene polymorphisms in SCC of the larynx. Eur. J. Cancer Prev. 12, 495-499 (2003).
64. Yu MW, Yang SY, Pan IJ et al. Polymorphisms in XRCC1 and glutathione S-transferase genes and hepatitis B-related hepatocellular carcinoma. J. Natl. Cancer Inst. 95, 1485-1488 (2003).
65. Harms C, Salama SA, Sierra-Torres CH, Cajas-Salazar N, Au WW. Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer. Environ. Mol. Mutagen. 44, 74-82 (2004).
66. Figueiredo JC, Knight JA, Briollais L, Andrulis IL, Ozcelik H. Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the ontario site of the Breast Cancer Family Registry. Cancer Epidemiol. Biomarkers Prev. 13, 583-591 (2004).
67. Försti A, Angelini S, Festa F et al. Single nucleotide polymorphisms in breast cancer. Oncol. Rep.11, 917-922 (2004).
68. Matsuo K, Hamajima N, Suzuki R et al. Lack of association between DNA base excision repair gene XRCC1 Gln399Arg polymorphism and risk of malignant lymphoma in Japan. Cancer Genet. Cytogenet. 149, 77-80 (2004).
69. Sanyal S, Festa F, Sakano S et al. Polymorphisms in DNA repair and metabolic genes in bladder cancer. Carcinogenesis 25, 729-734 (2004).
70. Vogel U, Nexo A, Wallin H, Overvad K, Tjonneland A, Raaschou-Nielsen O. No association between base excision repair gene polymorphisms and risk of lung cancer. Biochem. Genet. 42, 453-460 (2004).
71. Shen M, Berndt I, Rothman N et al. Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, China. Anticancer Res. 25, 537-542 (2005).
72. Hu Z, Ma H, Chen F, Wei Q, Shen H. XRCC1 polymorphisms and cancer risk. a meta-analysis of 38 case-control studies. Cancer Epidemiol. Biomarkers Prev. 14, 1810-1818 (2005).
73. Andrew AS, Nelson HH, Kelsey KT et al. Concordance of multiple analytical approaches demonstrates a complex relationship between DNA repair gene SNPs, smoking and bladder cancer susceptibility. Carcinogenesis 27, 1030-1037 (2006).
74. Cao Y, Miao XP, Huang MY et al. Polymorphisms of XRCC1 genes and risk of nasopharyngeal carcinoma in the Cantonese population. BMC Cancer 6(167) DOI:10.1186/1471-2407-2406-2167 (2006).
75. Hao B, Miao X, Li Y. 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 (2006).
76. Lopez-Cima MF, González-Arriaga P, Garciá-Castro L et al. Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of Northern Spain. BMC Cancer 7(162) DOI:10.1186/1471-2407-2407-2162 (2007).
77. Sak SC, Barrett JH, Paul AB, Bishop DT, Kiltie AE. DNA repair gene XRCC1 polymorphisms and bladder cancer risk. BMC Genet. 8(13) DOI:10.118/1471-2156-2158-2113 (2007).
78. Metsola K, Kataja V, Sillanpää P et al. XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study. Breast Cancer Res. 7, 987-997 (2005).
79. Figueroa JD, Malats N, Real FX et al. Genetic variation in the base excision repair pathway and bladder cancer risk. Hum. Genet. 121, 233-242 (2007).
80. Arizono K, Osada Y, Kuroda Y. DNA repair gene hOGG1 codon 326 and XRCC1 codon 399 polymorphisms and bladder cancer risk in a Japanese population 38(3), 186-91 (2008).
81. Hu Z, Ma H, Lu D et al. 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 (2005).
82. Martin ER, Ritchie MD, Hahn L, Kang S, Morre JH. A novel method to identify gene-gene effects in nuclear families: the MDR-PDT. Genet. Epidemiol. 30, 111-123 (2006).
83. Cancer Genome Anatomy Project SNP500Cancer Database http://snp500cancer. nci.nih.gov