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01-09-2008 | Epidemiology

Polymorphisms in three base excision repair genes and breast cancer risk in Thai women

Authors: Suleeporn Sangrajrang, Peter Schmezer, Iris Burkholder, Peter Waas, Paolo Boffetta, Paul Brennan, Helmut Bartsch, Surapon Wiangnon, Odilia Popanda

Published in: Breast Cancer Research and Treatment | Issue 2/2008

Abstract

DNA repair plays an important role in tumor development. The base excision repair (BER) pathway mainly removes DNA damage caused by ionizing radiation and reactive oxidative species. Here, we examined possible associations between polymorphisms in three important BER genes (OGG1 Ser326Cys, APEX1 Asp148Glu, XRCC1 Arg194Trp, XRCC1 Arg280His, XRCC1 Arg399Gln) and breast cancer incidence in Thai women. The study population consisted of 507 breast cancer cases and 425 controls. Odds ratios (OR) were adjusted by multivariate logistic regression analysis for age, body mass index, age at menarche, family history of breast cancer, menopausal status, reproduction parameters, use of contraceptives, tobacco smoking, involuntary tobacco smoking, alcohol drinking, and education. For homozygous carriers of the Glu allele in APEX1, a significant protective effect was found when compared to Asp/Asp carriers (odds ratio (OR) = 0.60, 95% confidence interval (CI) = 0.38–0.94). Subgroup analysis based on menopausal status revealed increased breast cancer risk in postmenopausal women and OGG1 (OR = 2.05, 95% CI 1.14–3.69). Reconstructed diplotypes for XRCC1 showed that CGA/CGA carriers had an increased risk of breast cancer compared with carriers of the wild type diplotype CGG/CGG (OR = 2.56, 95% CI 1.28–5.15). When the joint effects of XRCC1, APEX1 and OGG1 polymorphisms were evaluated, individuals homozygous for two or three risk alleles were at increased risk (OR = 1.88, 95% CI 1.26–2.82). In conclusion, our data suggest that Thai women with a certain XRCC1 diplotype or homozygous for two or three variant alleles of XRCC1, OGG1, and APEX1 are likely to have an increased susceptibility to breast cancer.

Sriplung H, Sontipong S, Martin N et al (2005) Cancer incidence in Thailand, 1995–1997. Asian Pac J Cancer Prev 6:276–281PubMed

Dumitrescu RG, Cotarla I (2005) Understanding breast cancer risk – where do we stand in 2005? J Cell Mol Med 9:208–221PubMedCrossRef

Bau DT, Mau YC, Ding SL et al (2007) DNA double-strand break repair capacity and risk of breast cancer. Carcinogenesis 28:1726–1730PubMedCrossRef

Garcia-Closas M, Egan KM, Newcomb PA et al (2006) Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet 119:376–388PubMedCrossRef

Parshad R, Price FM, Bohr VA et al (1996) Deficient DNA repair capacity, a predisposing factor in breast cancer. Br J Cancer 74:1–5PubMed

Nock NL, Cicek MS, Li L et al (2006) Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk. Carcinogenesis 27:1842–1848PubMedCrossRef

Roy D, Cai Q, Felty Q et al (2007) Estrogen-induced generation of reactive oxygen and nitrogen species, gene damage, and estrogen-dependent cancers. J Toxicol Environ Health B Crit Rev 10:235–257PubMed

Mohrenweiser HW, Wilson DM III, Jones IM (2003) Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes. Mutat Res 526:93–125PubMed

Memisoglu A, Samson L (2000) Base excision repair in yeast and mammals. Mutat Res 451:39–51PubMed

10.

Nilsen H, Krokan HE (2001) Base excision repair in a network of defence and tolerance. Carcinogenesis 22:987–998PubMedCrossRef

11.

Duell EJ, Millikan RC, Pittman GS et al (2001) Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev 10:217–222PubMed

12.

Lunn RM, Langlois RG, Hsieh LL et al (1999) XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 59:2557–2561PubMed

13.

Matullo G, Guarrera S, Carturan S et al (2001) DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer 92:562–567PubMedCrossRef

14.

Vodicka P, Stetina R, Polakova V et al (2007) Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects. Carcinogenesis 28:657–664PubMedCrossRef

15.

Pachkowski BF, Winkel S, Kubota Y et al (2006) XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking. Cancer Res 66:2860–2868PubMedCrossRef

16.

Hu JJ, Smith TR, Miller MS et al (2002) Genetic regulation of ionizing radiation sensitivity and breast cancer risk. Environ Mol Mutagen 39:208–215PubMedCrossRef

17.

Wang Y, Spitz MR, Zhu Y et al (2003) From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst) 2:901–908CrossRef

18.

Breast Cancer Association Consortium (2006) Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 98:1382–1396CrossRef

19.

Hung RJ, Hall J, Brennan P et al (2005) Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol 162:925–942PubMedCrossRef

20.

Zhang Y, Newcomb PA, Egan KM et al (2006) Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 15:353–358PubMedCrossRef

21.

Sangrajrang S, Schmezer P, Burkholder I et al (2007) The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population. Biomarkers 12:523–532PubMedCrossRef

22.

Popanda O, Schattenberg T, Phong CT et al (2004) Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. Carcinogenesis 25:2433–2441PubMedCrossRef

23.

Breslow NE, Day NE (1980) Statistical methods in cancer research. Volume I – The analysis of case-control studies. IARC Sci Publ 32:5–338PubMed

24.

Sauerbrei W, Royston P (1999) Building multivariable prognostic and diagnostic models; transformation of the predictors by using fractional polynomials. Journal of the Royal Statistical Society: Series A 162:71–94

25.

Terwilliger J, Ott J (1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore

26.

Xie X, Ott J (1993) Testing linkage disequlibrium between a disease gene and marker loci. Am J Hum Genet 53(Suppl):313

27.

Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162–1169PubMedCrossRef

28.

Moullan N, Cox DG, Angele S et al (2003) Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12:1168–1174PubMed

29.

Metsola K, Kataja V, Sillanpaa P et al (2005) XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study. Breast Cancer Res 7:R987–R997PubMedCrossRef

30.

Chacko P, Rajan B, Joseph T et al (2005) Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat 89:15–21PubMedCrossRef

31.

Jin MJ, Chen K, Zhang SS et al (2006) [Association of single nucleotide polymorphisms and haplotypes in DNA repair gene XRCC1 with susceptibility of breast cancer]. Zhejiang Da Xue Xue Bao Yi Xue Ban 35:370–376PubMed

32.

Rossner P Jr, Terry MB, Gammon MD et al (2006) OGG1 polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 15:811–815PubMedCrossRef

33.

Vogel U, Nexo BA, Olsen A et al (2003) No association between OGG1 Ser326Cys polymorphism and breast cancer risk. Cancer Epidemiol Biomarkers Prev 12:170–171PubMed

34.

Cai Q, Shu XO, Wen W et al (2006) Functional Ser326Cys polymorphism in the hOGG1 gene is not associated with breast cancer risk. Cancer Epidemiol Biomarkers Prev 15:403–404PubMedCrossRef

35.

Choi JY, Hamajima N, Tajima K et al (2003) hOGG1 Ser326Cys polymorphism and breast cancer risk among Asian women. Breast Cancer Res Treat 79:59–62PubMedCrossRef

36.

Hill JW, Evans MK (2006) Dimerization and opposite base-dependent catalytic impairment of polymorphic S326C OGG1 glycosylase. Nucleic Acids Res 34:1620–1632PubMedCrossRef

37.

Kohno T, Shinmura K, Tosaka M et al (1998) Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA. Oncogene 16:3219–3225PubMedCrossRef

38.

Weiss JM, Goode EL, Ladiges WC et al (2005) Polymorphic variation in hOGG1 and risk of cancer: a review of the functional and epidemiologic literature. Mol Carcinog 42:127–141PubMedCrossRef

39.

Hadi MZ, Coleman MA, Fidelis K et al (2000) Functional characterization of Ape1 variants identified in the human population. Nucleic Acids Res 28:3871–3879PubMedCrossRef

Title: Polymorphisms in three base excision repair genes and breast cancer risk in Thai women
Authors: Suleeporn Sangrajrang
Peter Schmezer
Iris Burkholder
Peter Waas
Paolo Boffetta
Paul Brennan
Helmut Bartsch
Surapon Wiangnon
Odilia Popanda
Publication date: 01-09-2008
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 2/2008
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-007-9773-7

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