Genetic polymorphisms in the base excision repair pathway and cancer risk: A huge review

American Journal of Epidemiology

Volumn 162, Issue 10, 2005, Pages 925-942

  Hung, Rayjean J ^a   Hall, Janet ^a   Brennan, Paul ^a   Boffetta, Paolo ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

8 oxoguanine DNA glycosylase, human; Apurinic apyrimidinic endonuclease; DNA repair; Genetic; Meta analysis; Neoplasms; Polymorphism; XRCC1 protein

Indexed keywords

8 HYDROXYGUANINE; DNA; DNA (APURINIC OR APYRIMIDINIC SITE) LYASE; DNA GLYCOSYLTRANSFERASE; PROTEIN; PROTEIN X RAY REPAIR CROSS COMPLEMENTING GROUP 1; UNCLASSIFIED DRUG;

CANCER; DNA; RISK FACTOR;

ALLELE; ARTICLE; CANCER EPIDEMIOLOGY; CANCER RISK; DATA ANALYSIS; DISEASE ASSOCIATION; DNA REPAIR; ENVIRONMENT; EVALUATION; EVIDENCE BASED MEDICINE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; MULTIGENE FAMILY; MUTAGENESIS; PREVALENCE; SMOKING;

CONFIDENCE INTERVALS; CONTINENTAL POPULATION GROUPS; DNA GLYCOSYLASES; DNA REPAIR; DNA, NEOPLASM; DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE; DNA-BINDING PROTEINS; GENE FREQUENCY; HUMANS; LUNG NEOPLASMS; NEOPLASMS; ODDS RATIO; POLYMORPHISM, GENETIC; PREVALENCE; SMOKING; WORLD HEALTH;

NICOTIANA TABACUM;

EID: 27744531188     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwi318     Document Type: Article

References (97)

1. Krokan HE, Nilsen H, Skorpen F, et al. Base excision repair of DNA in mammalian cells. FEBS Lett 2000;476:73-7.
2. Barnes DE, Lindahl T. Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu Rev Genet 2004;38:445-76.
3. Ide H, Kotera M. Human DNA glycosylases involved in the repair of oxidatively damaged DNA. Biol Pharm Bull 2004;27:480-5.
4. Lindahl T, Wood RD. Quality control by DNA repair. Science 1999;286:1897-905.
5. Lu AL, Li X, Gu Y, et al. Repair of oxidative DNA damage: mechanisms and functions. Cell Biochem Biophys 2001;35:141-70.
6. Spitz MR, Wei Q, Dong Q, et al. Genetic susceptibility to lung cancer: the role of DNA damage and repair. Cancer Epidemiol Biomarkers Prev 2003;12:689-98.
7. Shinmura K, Yokota J. The OGG1 gene encodes a repair enzyme for oxidatively damaged DNA and is involved in human carcinogenesis. Antioxid Redox Signal 2001;3:597-609.
8. Kohno T, Shinmura K, Tosaka M, et al. Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA. Oncogene 1998;16:3219-25.
9. Weiss JM, Goode EL, Ladiges WC, et al. Polymorphic variation in hOGG1 and risk of cancer: a review of the functional and epidemiologic literature. Mol Carcinog 2005;42:127-41.
10. Janssen K, Schlink K, Gotte W, et al. DNA repair activity of 8-oxoguanine DNA glycosylase 1 (OGG1) in human lymphocytes is not dependent on genetic polymorphism Ser326/ Cys326. Mutat Res 2001;486:207-16.
11. Dherin C, Radicella JP, Dizdaroglu M, et al. Excision of oxidatively damaged DNA bases by the human alpha-hOgg1 protein and the polymorphic alpha-hOgg1 (Ser326Cys) protein which is frequently found in human populations. Nucleic Acids Res 1999;27:4001-7.
12. Dianov GL, Sleeth KM, Dianova II, et al. Repair of abasic sites in DNA. Mutat Res 2003;531:157-63.
13. Izumi T, Hazra TK, Boldogh I, et al. Requirement for human AP endonuclease 1 for repair of 3′ -blocking damage at DNA single-strand breaks induced by reactive oxygen species. Carcinogenesis 2000;21:1329-34.
14. Hu JJ, Smith TR, Miller MS, et al. Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis 2001;22:917-22.
15. Cappelli E, Taylor R, Cevasco M, et al. Involvement of XRCC1 and DNA ligase III gene products in DNA base excision repair. J Biol Chem 1997;272:23970-5.
16. Fan J, Otterlei M, Wong HK, et al. XRCC1 co-localizes and physically interacts with PCNA. Nucleic Acids Res 2004;32:2193-201.
17. Goode EL, Ulrich CM, Potter JD. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 2002;11:1513-30.
18. Wang Y, Spitz MR, Zhu Y, et al. From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst) 2003;2:901-8.
19. Tuimala J, Szekely G, Gundy S, et al. Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. Carcinogenesis 2002;23:1003-8.
20. Lunn RM, Langlois RG, Hsieh LL, et al. XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 1999;59:2557-61.
21. Matullo G, Palli D, Peluso M, et al. XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis 2001;22:1437-45.
22. Palli D, Russo A, Masala G, et al. DNA adduct levels and DNA repair polymorphisms in traffic-exposed workers and a general population sample. Int J Cancer 2001;94:121-7.
23. David-Beabes GL, London SJ. Genetic polymorphism of XRCC1 and lung cancer risk among African-Americans and Caucasians. Lung Cancer 2001;34:333-9.
24. Duell EJ, Millikan RC, Pittman GS, et al. Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev 2001;10:217-22.
25. Hanaoka T, Sugimura H, Nagura K, et al. hOGG1 exon 7 polymorphism and gastric cancer in case-control studies of Japanese Brazilians and non-Japanese Brazilians. Cancer Lett 2001;170:53-61.
26. Takezaki T, Gao CM, Wu JZ, et al. hOGG1 Ser(326)Cys polymorphism and modification by environmental factors of stomach cancer risk in Chinese. Int J Cancer 2002;99:624-7.
27. Seedhouse C, Bainton R, Lewis M, et al. The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myelo-blastic leukemia. Blood 2002;100:3761-6.
28. Stern MC, Umbach DM, van Gils CH, et al. DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk. Cancer Epidemiol Biomarkers Prev 2001;10:125-31.
29. Kelsey KT, Park S, Nelson HH, et al. A population-based case-control study of the XRCC1 Arg399Gln polymorphism and susceptibility to bladder cancer. Cancer Epidemiol Biomarkers Prev 2004;13:1337-41.
30. Duell EJ, Holly EA, Bracci PM, et al. A population-based study of the Arg399Gln polymorphism in x-ray repair cross-complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. Cancer Res 2002;62:4630-6.
31. 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;60:5612-16.
32. Kim SU, Park SK, Yoo KY, et al. XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics 2002;12:335-8.
33. Shu XO, Cai Q, Gao YT, et al. A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2003;12:1462-7.
34. IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Tobacco smoke and involuntary smoking. IARC Monogr Eval Carcinog Risks Hum 2004;83:1-1438.
35. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986;7:177-88.
36. Egger M, Davey SG, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ 1997;315:629-34.
37. Park J, Chen L, Tockman MS, et al. The human 8-oxoguanine DNA N-glycosylase 1 (hOGG1) DNA repair enzyme and its association with lung cancer risk. Pharmacogenetics 2004;14:103-9.
38. Elahi A, Zheng Z, Park J, et al. The human OGG1 DNA repair enzyme and its association with orolaryngeal cancer risk. Carcinogenesis 2002;23:1229-34.
39. Xing DY, Tan W, Song N, et al. Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese population. Int J Cancer 2001;95:140-3.
40. Chacko P, Rajan B, Joseph T, et al. Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat 2005;89:15-21.
41. Yu HP, Zhang XY, Wang XL, et al. DNA repair gene XRCC1 polymorphisms, smoking, and esophageal cancer risk. Cancer Detect Prev 2004;28:194-9.
42. 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;92:562-7.
43. Dhenaut A, Boiteux S, Radicella JP. Characterization of the hOGG1 promoter and its expression during the cell cycle. Mutat Res 2000;461:109-18.
44. Nelson HH, Kelsey KT, Mott LA, et al. The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. Cancer Res 2002;62:152-5.
45. van Zeeland AA, de Groot AJ, Hall J, et al. 8-Hydroxydeoxyguanosine in DNA from leukocytes of healthy adults: relationship with cigarette smoking, environmental tobacco smoke, alcohol and coffee consumption. Mutat Res 1999;439:249-57.
46. Nia AB, Van Schooten FJ, Schilderman PA, et al. A multi-biomarker approach to study the effects of smoking on oxidative DNA damage and repair and antioxidative defense mechanisms. Carcinogenesis 2001;22:395-401.
47. Antoniou AC, Pharoah PD, McMullan G, et al. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001;21:1-18.
48. Antoniou AC, Pharoah PD, McMullan G, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002;86:76-83.
49. Xu H, Spitz MR, Amos CI, et al. Complex segregation analysis reveals a multigene model for lung cancer. Hum Genet 2005;116:121-7.
50. Sugimura H, Kohno T, Wakai K, et al. hOGG1 Ser326Cys polymorphism and lung cancer susceptibility. Cancer Epidemiol Biomarkers Prev 1999;8:669-74.
51. Ito H, Hamajima N, Takezaki T, et al. A limited association of OGG1 Ser326Cys polymorphism for adenocarcinoma of the lung. J Epidemiol 2002;12:258-65.
52. Sunaga N, Kohno T, Yanagitani N, et al. Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility. Cancer Epidemiol Biomarkers Prev 2002;11:730-8.
53. Lan Q, Mumford JL, Shen M, et al. Oxidative damage-related genes AKR1C3 and OGG1 modulate risks for lung cancer due to exposure to PAH-rich coal combustion emissions. Carcinogenesis 2004;25:2177-81.
54. Le Marchand L, Donlon T, Lum-Jones A, et al. Association of the hOGG1 Ser326Cys polymorphism with lung cancer risk. Cancer Epidemiol Biomarkers Prev 2002;11:409-12.
55. Wikman H, Risch A, Klimek F, et al. hOGG1 polymorphism and loss of heterozygosity (LOH): significance for lung cancer susceptibility in a Caucasian population. Int J Cancer 2000;88:932-7.
56. Hung RJ, Brennan P, Canzian F, et al. Large-scale investigation of base excision repair genetic polymorphisms and lung cancer risk in a multicenter study. J Natl Cancer Inst 2005;97:567-76.
57. Cho EY, Hildesheim A, Chen CJ, et al. Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1. Cancer Epidemiol Biomarkers Prev 2003;12:1100-4.
58. 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 2004;64:4378-84.
59. Zhang Z, Shi Q, Wang LE, et al. No association between hOGG1 Ser326Cys polymorphism and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev 2004;13:1081-3.
60. Kim JI, Park YJ, Kim KH, et al. hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer. World J Gastroenterol 2003;9:956-60.
61. Choi JY, Hamajima N, Tajima K, et al. hOGG1 Ser326Cys polymorphism and breast cancer risk among Asian women. Breast Cancer Res Treat 2003;79:59-62.
62. Vogel U, Nexo BA, Olsen A, et al. No association between OGG1 Ser326Cys polymorphism and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2003;12:170-1.
63. Xu J, Zheng SL, Turner A, et al. Associations between hOGG1 sequence variants and prostate cancer susceptibility. Cancer Res 2002;62:2253-7.
64. Vogel U, Olsen A, Wallin H, et al. No association between OGG1 Ser326Cys and risk of basal cell carcinoma. Cancer Epidemiol Biomarkers Prev 2004;13:1680-1.
65. 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 2004;25:1395-401.
66. 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 2003;191:171-8.
67. 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 2004;25:2433-41.
68. Ratnasinghe D, Yao SX, Tangrea JA, et al. Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk. Cancer Epidemiol Biomarkers Prev 2001;10:119-23.
69. 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 2002;23:1321-5.
70. Lee JM, Lee YC, Yang SY, et al. Genetic polymorphisms of XRCC1 and risk of the esophageal cancer. Int J Cancer 2001;95:240-6.
71. Xing D, Qi J, Miao X, et al. Polymorphisms of DNA repair genes XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population. Int J Cancer 2002;100:600-5.
72. Sturgis EM, Castillo EJ, Li L, et al. Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis 1999;20:2125-9.
73. Olshan AF, Watson MA, Weissler MC, et al. XRCC1 polymorphisms and head and neck cancer. Cancer Lett 2002;178:181-6.
74. Varzim G, Monteiro E, Silva RA, et al. CYP1A1 and XRCC1 gene polymorphisms in SCC of the larynx. Eur J Cancer Prev 2003;12:495-9.
75. 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 2000;159:79-86.
76. 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 2000;88:601-6.
77. Lee SG, Kim B, Choi J, et al. Genetic polymorphisms of XRCC1 and risk of gastric cancer. Cancer Lett 2002;187:53-60.
78. van Gils CH, Bostick RM, Stem MC, et al. 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 2002;11:1279-84.
79. Han J, Hankinson SE, De VI, et al. A prospective study of XRCC1 haplotypes and their interaction with plasma carotenoids on breast cancer risk. Cancer Res 2003;63:8536-41.
80. Smith TR, Miller MS, Lohman K, et al. Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Lett 2003;190:183-90.
81. Smith TR, Levine EA, Perrier ND, et al. DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2003;12:1200-4.
82. Moullan N, Cox DG, Angele S, et al. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 2003;12:1168-74.
83. Forsti A, Angelini S, Festa F, et al. Single nucleotide polymorphisms in breast cancer. Oncol Rep 2004;11:917-22.
84. Deligezer U, Dalay N. Association of the XRCC1 gene polymorphisms with cancer risk in Turkish breast cancer patients. Exp Mol Med 2004;36:572-5.
85. 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 2002;11:23-7.
86. 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 2005;65:722-6.
87. Divine KK, Gilliland FD, Crowell RE, et al. The XRCC1 399 glutamine allele is a risk factor for adenocarcinoma of the lung. Mutat Res 2001;461:273-8.
88. 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 2003;12:359-65.
89. Harms C, Salama SA, Sierra-Torres CH, et al. Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer. Environ Mol Mutagen 2004;44:74-82.
90. 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 2003;12:1234-40.
91. Sanyal S, Festa F, Sakano S, et al. Polymorphisms in DNA repair and metabolic genes in bladder cancer. Carcinogenesis 2004;25:729-34.
92. Yeh CC, Sung FC, Tang R, et al. Polymorphisms of the XRCC1, XRCC3, & XPD genes, and colorectal cancer risk: a case-control study in Taiwan. BMC Cancer 2005;5:12. (Electronic article).
93. 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 2003;95:1485-8.
94. Rybicki BA, Conti DV, Moreira A, et al. DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 2004;13:23-9.
95. 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 2004;149:77-80.
96. Nelson HH, Kelsey KT, Mott LA, et al. The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. Cancer Res 2002;62:152-5.
97. Yin J, Rockenbauer E, Hedayati M, et al. Multiple single nucleotide polymorphisms on human chromosome 19q13.2-3 associate with risk of basal cell carcinoma. Cancer Epidemiol Biomarkers Prev 2002;11:1449-53.