**10. Abbreviations**

AFB1, Aflatoxin B1; AFB1-epoxide, AFB1-8,9-epoxide; AFB1-N7-Gua, 8,9-di-hydro-8-(N7 guanyl)-9-hydroxy–AFB1; AFB1-FAPy, ring-opened formamidopyridine AFB1; APE1, AP endonuclease-1; BER, base excision repair; CI, confidence interval; DSB, double-strand break; DSBR, double-strand break repair; HBV, hepatitis virus B; HCV, hepatitis virus C; HCC, hepatocellular carcinoma; hOGG1, Human oxoguanine glycosylase 1; NER,

DNA Repair Capacity-Related to Genetic Polymorphisms of DNA Repair

6.

15.

ndex2010.html.

1999;424:167-81.

2009;24:1962-8.

1977;74:1870-4.

Genes and Aflatoxin B1-Related Hepatocellular Carcinoma Among Chinese Population 517

[16] Ma AM, Luo YX, Wan JL, Long XD, Huang YZ. An investigative analysis of incidence,

[17] Youjiang Medical College for Nationalities and Public Health Bureau of Tiandong.

China Academic Journal electronic Publishing Househttp://wwwenkinet. [18] the Ministry of Health of People's Republic of China. Annals of health statistics in

[19] Wang JS, Groopman JD. DNA damage by mycotoxins. Mutation research.

[20] Yeh FS, Mo CC, Yen RC. Risk factors for hepatocellular carcinoma in Guangxi, People's Republic of China. National Cancer Institute monograph. 1985;69:47-8. [21] Cheng B, Jungst C, Lin J, Caselmann WH. [Potential role of human DNA-repair

[22] Scholl PF, McCoy L, Kensler TW, Groopman JD. Quantitative analysis and chronic

[23] Sudhakar P, Latha P, Sreenivasulu Y, Reddy BV, Hemalatha TM, Balakrishna M, et al.

[24] International Agency for Research on Cancer, Some naturally occurring substances:

[25] Ben Rejeb I, Arduini F, Arvinte A, Amine A, Gargouri M, Micheli L, et al. Development

[26] Giri I, Stone MP. Wobble dC.dA pairing 5' to the cationic guanine N7 8,9-dihydro-8-

[27] Habib SL, Said B, Awad AT, Mostafa MH, Shank RC. Novel adenine adducts, N7-

[28] Guengerich FP, Johnson WW, Shimada T, Ueng YF, Yamazaki H, Langouet S. Activation and detoxication of aflatoxin B1. Mutation research. 1998;402:121-8. [29] Essigmann JM, Croy RG, Nadzan AM, Busby WF, Jr., Reinhold VN, Buchi G, et al.

[30] Croy RG, Essigmann JM, Reinhold VN, Wogan GN. Identification of the principal

Academy of Sciences of the United States of America. 1978;75:1745-9.

dilution mass spectrometry. Chem Res Toxicol. 2006;19:44-9.

methyleugenol. Indian J Exp Biol. 2009;47:63-7.

mutagenesis. Biochemistry. 2003;42:7023-34.

Monogr. Eval Carcinog Risks Hum 1993;56:245-540.

aflatoxin exposure. Cancer Detect Prev. 2006;30:491-8.

prevention, and treatment of hepatocellular carcinoma in Xiangzhou, Baise, Guangxi Autonomous Region, China. Youjiang Minzu Yixueyuan Bao. 2010;32:165-

General investigation of hepatocellular carcinoma in Tiandong, China. 1994—2008

China in 2010. ttp://www.moh.gov.cn/publicfiles/business/htmlfiles/zwgkzt/ptjnj/year2010/i

enzymes hMTH1, hOGG1 and hMYHalpha in the hepatocarcinogenesis]. Journal of Huazhong University of Science and Technology Medical sciences. 2002;22:206-11,

dosimetry of the aflatoxin B1 plasma albumin adduct Lys-AFB1 in rats by isotope

Inhibition of Aspergillus flavus colonization and aflatoxin (AfB1) in peanut by

food items and constituents, heterocyclic aromatic amines and mycotoxins, IARC

of a bio-electrochemical assay for AFB1 detection in olive oil. Biosens Bioelectron.

(N7-guanyl)-9-hydroxyaflatoxin B1 adduct: implications for nontargeted AFB1

guanine-AFB1 adducts, and p53 mutations in patients with schistosomiasis and

Structural identification of the major DNA adduct formed by aflatoxin B1 in vitro. Proceedings of the National Academy of Sciences of the United States of America.

aflatoxin B1-DNA adduct formed in vivo in rat liver. Proceedings of the National

nucleotide excision repair; OR, odds ratio; 8-oxodG, 8-oxodeoxyguanosine; PARP, poly (ADPribose) polymerase; PLC, Primary liver cancer; PNK, polynucleotide kinase; Pol β, DNA polymerase β; SSB, single-strand break; SSBR, single-strand break repair; XPA, xeroderma pigmentosum A; XPC, xeroderma pigmentosum C; XPD, xeroderma pigmentosum D; XRCC1, x-ray repair cross complementary 1; XRCC3, x-ray repair cross complementary 3; XRCC4, x-ray repair cross complementary 4.

#### **11. References**


nucleotide excision repair; OR, odds ratio; 8-oxodG, 8-oxodeoxyguanosine; PARP, poly (ADPribose) polymerase; PLC, Primary liver cancer; PNK, polynucleotide kinase; Pol β, DNA polymerase β; SSB, single-strand break; SSBR, single-strand break repair; XPA, xeroderma pigmentosum A; XPC, xeroderma pigmentosum C; XPD, xeroderma pigmentosum D; XRCC1, x-ray repair cross complementary 1; XRCC3, x-ray repair cross complementary 3;

[1] Parkin DM, Bray F, Ferlay J, Pisani P. Global cancer statistics, 2002. CA Cancer J Clin.

[2] Henry SH, Bosch FX, Troxell TC, Bolger PM. Reducing Liver Cancer--Global Control of

[3] Dominguez-Malagon H, Gaytan-Graham S. Hepatocellular carcinoma: an update.

[4] Long XD, Ma Y, Zhou YF, Ma AM, Fu GH. Polymorphism in xeroderma pigmentosum

[5] de Oliveira CA, Germano PM. [Aflatoxins: current concepts on mechanisms of toxicity

[6] Makarananda K, Pengpan U, Srisakulthong M, Yoovathaworn K, Sriwatanakul K.

[7] Sell S. Mouse models to study the interaction of risk factors for human liver cancer.

[8] Wang JS, Huang T, Su J, Liang F, Wei Z, Liang Y, et al. Hepatocellular carcinoma and

[9] Clifford RJ, Zhang J, Meerzaman DM, Lyu MS, Hu Y, Cultraro CM, et al. Genetic

[10] Pang RW, Joh JW, Johnson PJ, Monden M, Pawlik TM, Poon RT. Biology of hepatocellular carcinoma. Annals of surgical oncology. 2008;15:962-71. [11] Wilson DM, 3rd, Thompson LH. Life without DNA repair. Proceedings of the National Academy of Sciences of the United States of America. 1997;94:12754-7. [12] Long XD, Tang YH, Qu DY, Ma Y. The toxicity and role of aflatoxin B1 and DNA

[13] J.G. C, sONG XM. An evaluation on incidence cases of liver cancer in China. Zhongguo

[14] Wang YW, Lan LZ, Ye BF, Xu YC, Liu YY, Li WG. The association among geographic

[15] Zhang WS, Chen WQ, Kong LZ, Li GL, Zhao P. An Annual Repor t: Cancer Incidence in 35 Cancer Registr ies in China, 2003. Zhongguo Zhongliu. 2007;16:497-507.

carcinoma in the Guangxi population. Hepatology. 2010;52:1301-9.

complementation group C codon 939 and aflatoxin B1-related hepatocellular

and their involvement in the etiology of hepatocellular carcinoma]. Rev Saude

Monitoring of aflatoxin exposure by biomarkers. J Toxicol Sci. 1998;23 Suppl 2:155-

aflatoxin exposure in Zhuqing Village, Fusui County, People's Republic of China.

variations at loci involved in the immune response are risk factors for

repair (corresponding DNA repair enzymes) Youjiang Medical College for

distribution, climate, and aflatoxin B1 exposure in China. Zhonggou Kexue.

XRCC4, x-ray repair cross complementary 4.

Aflatoxin. Science. 1999;286:2453-4.

Ultrastruct Pathol. 2001;25:497-516.

Cancer research. 2003;63:7553-62.

Nationalities Xue Bao. 2006;28:278-80.

Zhongliu. 2005;14:28-31.

1983;B:431-7.

Cancer Epidemiol Biomarkers Prev. 2001;10:143-6.

hepatocellular carcinoma. Hepatology. 2010;52:2034-43.

Publica. 1997;31:417-24.

2005;55:74-108.

**11. References** 

9.


DNA Repair Capacity-Related to Genetic Polymorphisms of DNA Repair

carcinoma from China. Carcinogenesis. 1993;14:169-73.

area of Qidong (China). Carcinogenesis. 1994;15:1353-7.

mammalian cells. Mutation research. 1992;273:145-55.

population, China. Ann Epidemiol. 2008;18:572-8.

population, China. Hepatol Res. 2006;36:48-55.

Mutat. 2003;21:240-51.

letters. 2003;199:1-7.

Hum Mutat. 2003;21:201-16.

Diego, 1994, pp. 149–178.

genetics. 2008;25:268-71.

Mol Carcinog. 2010;49:611-8.

14.

Genes and Aflatoxin B1-Related Hepatocellular Carcinoma Among Chinese Population 519

[47] Vahakangas K. TP53 mutations in workers exposed to occupational carcinogens. Hum

[48] Staib F, Hussain SP, Hofseth LJ, Wang XW, Harris CC. TP53 and liver carcinogenesis.

[49] Chan KT, Hsieh DP, Lung ML. In vitro aflatoxin B1-induced p53 mutations. Cancer

[50] Bressac B, Kew M, Wands J, Ozturk M. Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa. Nature. 1991;350:429-31. [51] Li D, Cao Y, He L, Wang NJ, Gu JR. Aberrations of p53 gene in human hepatocellular

[52] Kirk GD, Camus-Randon AM, Mendy M, Goedert JJ, Merle P, Trepo C, et al. Ser-249

[53] Loechler, E.L. Mechanisms by which aflatoxins and other bulky carcinogens induce

[54] Aguilar F, Hussain SP, Cerutti P. Aflatoxin B1 induces the transversion of G-->T in

[55] Denissenko MF, Koudriakova TB, Smith L, O'Connor TR, Riggs AD, Pfeifer GP. The

[56] Duflot A, Hollstein M, Mehrotra R, Trepo C, Montesano R, Cova L. Absence of p53

[57] Waters R, Jones CJ, Martin EA, Yang AL, Jones NJ. The repair of large DNA adducts in

[58] Long XD, Ma Y, Deng ZL, Huang YZ, Wei NB. [Association of the Thr241Met

[59] Long XD, Ma Y, Huang YZ, Yi Y, Liang QX, Ma AM, et al. Genetic polymorphisms in

[60] Long XD, Ma Y, Qu de Y, Liu YG, Huang ZQ, Huang YZ, et al. The polymorphism of

[61] Long XD, Ma Y, Wei YP, Deng ZL. The polymorphisms of GSTM1, GSTT1, HYL1\*2,

[62] Long XD, Ma Y, Wei YP, Deng ZL. X-ray repair cross-complementing group 1 (XRCC1)

Gambia. Journal of the National Cancer Institute. 2000;92:148-53.

p53 mutations in plasma DNA of patients with hepatocellular carcinoma from The

mutations, in: D.L. Eaton, J.D. Groopman (Eds.), The Toxicology of Aflatoxins: Human Health, Veterinary, and Agricultural Significance, Academic Press, San

codon 249 of the p53 tumor suppressor gene in human hepatocytes. Proceedings of the National Academy of Sciences of the United States of America. 1993;90:8586-90.

p53 codon 249 mutational hotspot in hepatocellular carcinoma is not related to selective formation or persistence of aflatoxin B1 adducts. Oncogene. 1998;17:3007-

mutation at codon 249 in duck hepatocellular carcinomas from the high incidence

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 = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical

DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China.

XRCC3 codon 241 and AFB1-related hepatocellular carcinoma in Guangxi

and XRCC1, and aflatoxin B1-related hepatocellular carcinoma in Guangxi

Arg 399 Gln polymorphism and aflatoxin B1 (AFB1)-related hepatocellular carcinoma (HCC) in Guangxi population. Chinese J Cancer Res. 2005;17:17-21.


[31] Gopalakrishnan S, Harris TM, Stone MP. Intercalation of aflatoxin B1 in two

[32] Johnson WW, Guengerich FP. Reaction of aflatoxin B1 exo-8,9-epoxide with DNA:

[35] Chen JD, Liu CJ, Lee PH, Chen PJ, Lai MY, Kao JH, et al. Hepatitis B genotypes

[36] Gradelet S, Le Bon AM, Berges R, Suschetet M, Astorg P. Dietary carotenoids inhibit

the modulation of aflatoxin B1 metabolism. Carcinogenesis. 1998;19:403-11. [37] Farombi EO, Adepoju BF, Ola-Davies OE, Emerole GO. Chemoprevention of aflatoxin

[38] Liu J, Yang CF, Lee BL, Shen HM, Ang SG, Ong CN. Effect of Salvia miltiorrhiza on

[39] Long XD, Ma Y, Zhou YF, Yao JG, Ban FZ, Huang YZ, et al. XPD Codon 312 and 751

[40] Long XD, Ma Y, Deng ZL. GSTM1 and XRCC3 polymorphisms: Effects on levels of

[41] Long XD, Ma Y, Huang HD, Yao JG, Qu de Y, Lu YL. Polymorphism of XRCC1 and the

[42] Wild CP, Montesano R. A model of interaction: aflatoxins and hepatitis viruses in liver

[43] Shen HM, Ong CN. Mutations of the p53 tumor suppressor gene and ras oncogenes in

[44] Golli-Bennour EE, Kouidhi B, Bouslimi A, Abid-Essefi S, Hassen W, Bacha H.

combination in cultured Vero cells. J Biochem Mol Toxicol. 2010;24:42-50. [45] Paget V, Sichel F, Garon D, Lechevrel M. Aflatoxin B1-induced TP53 mutational

[46] Van Vleet TR, Watterson TL, Klein PJ, Coulombe RA, Jr. Aflatoxin B1 alters the

aflatoxin B1-DNA adducts. Chinese J Cancer Res. 2009;21:177-84.

among Guangxi population, China. Mol Carcinog. 2008;47:295-300.

aflatoxin hepatocarcinogenesis. Mutation research. 1996;366:23-44.

cancer aetiology and prevention. Cancer letters. 2009;286:22-8.

Alleles in Yeast). Mutation research. 2008;656:55-61.

carcinoma. Clin Gastroenterol Hepatol. 2004;2:64-71.

48.

14.

research. 1999;31:559-68.

cancer. 2009;9:400.

2006;89:399-407.

1981;78:5445-9.

oligodeoxynucleotide adducts: comparative 1H NMR analysis of d(ATCAFBGAT).d(ATCGAT) and d(ATAFBGCAT)2. Biochemistry. 1990;29:10438-

kinetic analysis of covalent binding and DNA-induced hydrolysis. Proceedings of the National Academy of Sciences of the United States of America. 1997;94:6121-5. [33] Croy RG, Wogan GN. Temporal patterns of covalent DNA adducts in rat liver after single and multiple doses of aflatoxin B1. Cancer research. 1981;41:197-203. [34] Groopman JD, Croy RG, Wogan GN. In vitro reactions of aflatoxin B1-adducted DNA.

Proceedings of the National Academy of Sciences of the United States of America.

correlate with tumor recurrence after curative resection of hepatocellular

aflatoxin B1-induced liver preneoplastic foci and DNA damage in the rat: role of

B1-induced genotoxicity and hepatic oxidative damage in rats by kolaviron, a natural bioflavonoid of Garcinia kola seeds. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation. 2005;14:207-

aflatoxin B1-induced oxidative stress in cultured rat hepatocytes. Free radical

Polymorphisms, and AFB1 Exposure, and Hepatocellular Carcinoma Risk. BMC

frequency of mutation in codon 249 of the p53 gene in hepatocellular carcinoma

Cytotoxicity and genotoxicity induced by aflatoxin B1, ochratoxin A, and their

pattern in normal human cells using the FASAY (Functional Analysis of Separated

expression of p53 in cytochrome P450-expressing human lung cells. Toxicol Sci.


DNA Repair Capacity-Related to Genetic Polymorphisms of DNA Repair

colorectal cancer. Mutation research. 2007;619:68-80.

research and clinical oncology. 2010;136:779-86.

cancer in Trp53-/- mice. Cancer research. 1999;59:771-5.

human hepatocellular carcinoma. J Hepatol. 2005;43:288-93.

bing xue za zhi = Zhonghua liuxingbingxue zazhi. 2009;30:942-5.

review. American journal of epidemiology. 2006;164:297-302.

neck. Arch Otolaryngol Head Neck Surg. 2002;128:1084-8.

journal of andrology. 2009;32:235-41.

Cancer research. 2002;62:5457-62.

Mutagenesis. 2002;17:463-9.

Cancer research. 1998;58:604-8.

(Amsterdam, Netherlands). 2002;36:15-6.

2002;23:1321-5.

Genes and Aflatoxin B1-Related Hepatocellular Carcinoma Among Chinese Population 521

[79] Hansen RD, Sorensen M, Tjonneland A, Overvad K, Wallin H, Raaschou-Nielsen O, et

[80] Liang J, Gu A, Xia Y, Wu B, Lu N, Wang W, et al. XPC gene polymorphisms and risk of

[81] Gangwar R, Mandhani A, Mittal RD. XPC gene variants: a risk factor for recurrence of

[82] Francisco G, Menezes PR, Eluf-Neto J, Chammas R. XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis. Eur J Hum Genet. 2008;16:724-34. [83] Cheo DL, Burns DK, Meira LB, Houle JF, Friedberg EC. Mutational inactivation of the

[84] Fautrel A, Andrieux L, Musso O, Boudjema K, Guillouzo A, Langouet S.

[85] Cai XL, Gao YH, Yu ZW, Wu ZQ, Zhou WP, Yang Y, et al. [A 1:1 matched case-control

[86] Aloyz R, Xu ZY, Bello V, Bergeron J, Han FY, Yan Y, et al. Regulation of cisplatin

[87] Manuguerra M, Saletta F, Karagas MR, Berwick M, Veglia F, Vineis P, et al. XRCC3

[88] Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk.

[89] Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution

[90] Sturgis EM, Dahlstrom KR, Spitz MR, Wei Q. DNA repair gene ERCC1 and

[91] Chen S, Tang D, Xue K, Xu L, Ma G, Hsu Y, et al. DNA repair gene XRCC1 and XPD

[92] Park JY, Lee SY, Jeon HS, Park SH, Bae NC, Lee EB, et al. Lys751Gln polymorphism in

[93] Xing D, Qi J, Miao X, Lu W, Tan W, Lin D. Polymorphisms of DNA repair genes

al. XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of

idiopathic azoospermia or oligozoospermia in a Chinese population. International

urothelial bladder carcinoma in patients on BCG immunotherapy. Journal of cancer

xeroderma pigmentosum group C gene confers predisposition to 2 acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular

Overexpression of the two nucleotide excision repair genes ERCC1 and XPC in

study on the interaction between HBV, HCV infection and DNA repair gene XPC Ala499Val, Lys939Gln for primary hepatocellular carcinoma]. Zhonghua liu xing

resistance and homologous recombinational repair by the TFIIH subunit XPD.

and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE

variants exist at polymorphic frequency in DNA repair genes in healthy humans.

ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and

polymorphisms and risk of lung cancer in a Chinese population. Carcinogenesis.

the DNA repair gene XPD and risk of primary lung cancer. Lung cancer

XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population. International journal of cancer. 2002;100:600-5.


[63] Nouspikel T. DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility. Cellular and molecular life sciences : CMLS. 2009;66:994-1009. [64] Rechkunova NI, Lavrik OI. Nucleotide excision repair in higher eukaryotes:

[65] Rajaraman P, Hutchinson A, Wichner S, Black PM, Fine HA, Loeffler JS, et al. DNA

[66] Matakidou A, Eisen T, Fleischmann C, Bridle H, Houlston RS. Evaluation of xeroderma

[68] Dogru-Abbasoglu S, Inceoglu M, Parildar-Karpuzoglu H, Hanagasi HA, Karadag B,

[69] Romanowicz-Makowska H, Smolarz B, Kulig A. [Polymorphisms in XRCC1 and

[70] X.M. W, Ma Y, Deng ZL, Long XD. The polymorphism at codon 939 of xeroderma

[71] Li LM, Zeng XY, Ji L, Fan XJ, Li YQ, Hu XH, et al. [Association of XPC and XPG

[72] Sugasawa K. XPC: its product and biological roles. Advances in experimental medicine

[73] Strom SS, Estey E, Outschoorn UM, Garcia-Manero G. Acute myeloid leukemia

[74] Sakano S, Matsumoto H, Yamamoto Y, Kawai Y, Eguchi S, Ohmi C, et al. Association

[76] Zhou RM, Li Y, Wang N, Zhang XJ, Dong XJ, Guo W. [Correlation of XPC Ala499Val

[77] Zhang D, Chen C, Fu X, Gu S, Mao Y, Xie Y, et al. A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk. Journal of human genetics. 2008;53:18-33. [78] Shore RE, Zeleniuch-Jacquotte A, Currie D, Mohrenweiser H, Afanasyeva Y, Koenig

with muscle-invasive bladder cancer. Pathobiology. 2006;73:295-303. [75] Qiu L, Wang Z, Shi X, Wang Z. Associations between XPC polymorphisms and risk of

cancers: A meta-analysis. Eur J Cancer. 2008;44:2241-53.

risk. International journal of cancer. 2008;122:2101-5.

biochemistry. 2010;50:251-77.

2010;29:1920-8.

2010;18:271-5.

and biology. 2008;637:47-56.

cancer. 2006;25:1113-9.

Lett. 2006;404:258-61.

neuroma. Neuro Oncol. 2010;12:37-48.

Pol Merkur Lekarski. 2007;22:200-3.

Zhonghua Xiaohua Zazhi. 2010;30:846-8.

patients. Leuk Lymphoma. 2010;51:598-605.

mechanism of primary damage recognition in global genome repair. Sub-cellular

repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic

pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial earlyonset lung cancer predisposition. International journal of cancer. 2006;119:964-7. [67] Wang M, Yuan L, Wu D, Zhang Z, Yin C, Fu G, et al. A novel XPF -357A>C

polymorphism predicts risk and recurrence of bladder cancer. Oncogene.

Gurvit H, et al. Polymorphisms in the DNA repair genes XPD (ERCC2) and XPF (ERCC4) are not associated with sporadic late-onset Alzheimer's disease. Neurosci

ERCC4/XPF DNA repair genes and associations with breast cancer risk in women].

pigmentosum C gene and hepatocellular carcinoma among Guangxi population.

polymorphisms with the risk of hepatocellular carcinoma]. Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology.

outcome: role of nucleotide excision repair polymorphisms in intermediate risk

between DNA repair gene polymorphisms and p53 alterations in Japanese patients

and Lys939Gln polymorphisms to risks of esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma]. Ai zheng = Aizheng = Chinese journal of

KL, et al. Polymorphisms in XPC and ERCC2 genes, smoking and breast cancer


DNA Repair Capacity-Related to Genetic Polymorphisms of DNA Repair

Epidemiol Biomarkers Prev. 2001;10:119-23.

Rev Mol Diagn. 2008;8:761-80.

damage. J Carcinog. 2009;8:14.

treatment. 2009;115:137-44.

2008;24:361-4.

CMLS. 2009;66:981-93.

biophysics. 2000;377:1-8.

Carcinogen. 2005;42:127-41.

repair. Mol Carcinogen. 2009;48:362-8.

Biochem. 2009;327:7-13.

Genes and Aflatoxin B1-Related Hepatocellular Carcinoma Among Chinese Population 523

[109] Ratnasinghe D, Yao SX, Tangrea JA, Qiao YL, Andersen MR, Barrett MJ, et al.

[110] Kim SU, Park SK, Yoo KY, Yoon KS, Choi JY, Seo JS, et al. XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics. 2002;12:335-8. [111] Schneider J, Classen V, Helmig S. XRCC1 polymorphism and lung cancer risk. Expert

[112] Kiran M, Saxena R, Chawla YK, Kaur J. Polymorphism of DNA repair gene XRCC1

[113] Li Y, Long C, Lin G, Marion MJ, Freyer G, Santella RM, et al. Effect of the XRCC1

[114] Saadat M, Ansari-Lari M. Polymorphism of XRCC1 (at codon 399) and susceptibility

[115] Yu MW, Yang SY, Pan IJ, Lin CL, Liu CJ, Liaw YF, et al. Polymorphisms in XRCC1

[116] Yang JL, Han YN, Zheng SG. Influence of human XRCC1-399 single nucleotide polymorphism on primary hepatocytic carcinoma. Zhongliu. 2004;24:322-4. [117] Chen CC, Yang SY, Liu CJ, Lin CL, Liaw YF, Lin SM, et al. Association of cytokine

[118] Ren y, Wang DS, Li Z, Xin YM, Yin JM, Zahgn B, et al. Study on the Relationship

[119] Donigan KA, Sweasy JB. Sequence context-specific mutagenesis and base excision

[120] Robertson AB, Klungland A, Rognes T, Leiros I. DNA repair in mammalian cells:

[121] Boiteux S, Radicella JP. The human OGG1 gene: structure, functions, and its

[122] Nishimura S. Involvement of mammalian OGG1(MMH) in excision of the 8-

[124] Kohno T, Shinmura K, Tosaka M, Tani M, Kim SR, Sugimura H, et al. Genetic

repair of 8-hydroxyguanine in damaged DNA. Oncogene. 1998;16:3219-25. [125] Sakamoto T, Higaki Y, Hara M, Ichiba M, Horita M, Mizuta T, et al. hOGG1

carcinoma. Journal of the National Cancer Institute. 2003;95:1485-8.

carcinoma. International journal of epidemiology. 2005;34:1310-8.

Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk. Cancer

and hepatitis-related hepatocellular carcinoma risk in Indian population. Mol Cell

codon 399 polymorphism on the repair of vinyl chloride metabolite-induced DNA

to breast cancer, a meta-analysis of the literatures. Breast cancer research and

and glutathione S-transferase genes and hepatitis B-related hepatocellular

and DNA repair gene polymorphisms with hepatitis B-related hepatocellular

between Gene XRCC1 Codon 399 Single Nucleotide Polymorphisms and Primary Hepatic Carcinoma in Han Nationality. Linchuang Gandang Bing Zazhi.

Base excision repair: the long and short of it. Cellular and molecular life sciences :

implication in the process of carcinogenesis. Archives of biochemistry and

hydroxyguanine residue in DNA. Free radical biology & medicine. 2002;32:813-21. [123] Weiss JM, Goode EL, Ladiges WC, Ulrich CM. Polymorphic variation in hOGG1 and

risk of cancer: a review of the functional and epidemiologic literature. Mol

polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the

Ser326Cys polymorphism and risk of hepatocellular carcinoma among Japanese. Journal of epidemiology / Japan Epidemiological Association. 2006;16:233-9.


[94] Stern MC, Johnson LR, Bell DA, Taylor JA. XPD codon 751 polymorphism, metabolism

[95] Sturgis EM, Castillo EJ, Li L, Eicher SA, Strom SS, Spitz MR, et al. XPD/ERCC2 EXON

[96] Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, et al. Modulation of nucleotide

[97] Rzeszowska-Wolny J, Polanska J, Pietrowska M, Palyvoda O, Jaworska J, Butkiewicz

[98] Tang D, Cho S, Rundle A, Chen S, Phillips D, Zhou J, et al. Polymorphisms in the DNA

[99] Terry MB, Gammon MD, Zhang FF, Eng SM, Sagiv SK, Paykin AB, et al.

[100] Mechanic LE, Marrogi AJ, Welsh JA, Bowman ED, Khan MA, Enewold L, et al.

[101] Caldecott KW. Mammalian single-strand break repair: mechanisms and links with

[102] Fortini P, Dogliotti E. Base damage and single-strand break repair: mechanisms and

[103] Thompson LH, West MG. XRCC1 keeps DNA from getting stranded. Mutation

[104] Yamane K, Katayama E, Tsuruo T. The BRCT regions of tumor suppressor BRCA1

[105] Bhattacharyya N, Banerjee S. A novel role of XRCC1 in the functions of a DNA

[106] Dulic A, Bates PA, Zhang X, Martin SR, Freemont PS, Lindahl T, et al. BRCT domain

[107] Divine KK, Gilliland FD, Crowell RE, Stidley CA, Bocklage TJ, Cook DL, et al. The

[108] Lee JM, Lee YC, Yang SY, Yang PW, Luh SP, Lee CJ, et al. Genetic polymorphisms of

of the head and neck. Oral Oncol. 2002;38:475-7.

lymphocytes in vitro. Radiation research. 2005;164:132-40.

2002;11:1004-11.

2002;75:159-66.

2004;13:2053-8.

2007;6:398-409.

2001;95:240-6.

research. 2000;459:1-18.

Biochemistry. 2001;40:5906-13.

Mutation research. 2001;461:273-8.

Carcinogenesis. 2005;26:597-604.

chromatin. DNA repair. 2007;6:443-53.

Biochem Biophys Res Commun. 2000;279:678-84.

polymerase beta variant. Biochemistry. 2001;40:9005-13.

research. 2001;61:1354-7.

genes, smoking, and bladder cancer risk. Cancer Epidemiol Biomarkers Prev.

8 Polymorphisms: rarity and lack of significance in risk of squamous cell carcinoma

excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer

D, et al. Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in

repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. Breast cancer research and treatment.

Polymorphism in the DNA repair gene XPD, polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, and breast cancer risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

Polymorphisms in XPD and TP53 and mutation in human lung cancer.

functional significance of short- and long-patch repair subpathways. DNA repair.

and of XRCC1 show DNA end binding activity with a multimerizing feature.

interactions in the heterodimeric DNA repair protein XRCC1-DNA ligase III.

XRCC1 399 glutamine allele is a risk factor for adenocarcinoma of the lung.

XRCC1 and risk of the esophageal cancer. International journal of cancer.


**26** 

Ravindran Ankathil

*Kubang Kerian, Kelantan* 

*Malaysia* 

**Low Penetrance Genetic Variations in DNA** 

The genetic material, DNA, which encodes genes needed for the production of essential proteins, is vulnerable to damage in a number of ways. Human DNA is assaulted on a daily basis by a variety of exogenous factors including UV light, cigarette smoke, dietary factors, and other carcinogens all of which can cause varying degrees of DNA damage and can lead to mutations. Similarly, endogenous factors such as undue DNA replication which can cause mismatches, hydrolysis leading to spontaneous DNA depurination, replication form collapse which can result in strand breaks, loss of bases because of spontaneous disintegration of chemical bonds, and DNA damage secondary to endogenous reactants such as alkyl groups, metal cations, and reactive oxygen species (ROS) which can induce base oxidation and DNA breaks also contribute to DNA damage (Branzei & Foiani, 2008;

When DNA is damaged, an intertwined network of surveillance mechanisms will act

• Sensing and recognizing DNA damage by activation of cell cycle checkpoints, pause that permit assessment and complete of DNA processing , either DNA damage repair or

• Programmed cell death or apoptosis when the cell is unable to repair the damage

DNA damages are repaired by enzymes coded by one or more DNA repair pathways according to their structure, or their location in the cellular genome. DNA repair enzymes can be characterized as cellular proteins acting directly on damaged DNA in an attempt to restore the correct DNA sequence and structure. These relatively specialized enzymes appear to undertake the initial stages of recognition and repair of specific forms of DNA damage. Since there are various kinds of DNA damage, a variety of repair mechanisms are essential. Cells integrate DNA repair process with transcription and apoptosis through a network known as the DNA damage response (DDR) which is orchestrated by the

**1. Introduction** 

Capella et al., 2008)

sustained and

checkpoint proteins.

processing of DNA intermediates • Up regulation a large number of genes

• Elicitation of multiple distinct DNA repair responses

including

**Repair Genes and Cancer Susceptibility** 

*Human Genome Center, School of Medical Sciences* 

*University Sains Malaysia, Health Campus* 

