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Open Access 01-12-2018 | Research article

Association of APEX1 and OGG1 gene polymorphisms with breast cancer risk among Han women in the Gansu Province of China

Authors: Tao Wang, Haitao Wang, Suisheng Yang, Hongyun Guo, Binming Zhang, Huan Guo, Lan Wang, Gongjian Zhu, Yongdong Zhang, Haihong Zhou, Xiuli Zhang, Haining Li, Haixiang Su

Published in: BMC Medical Genetics | Issue 1/2018

Abstract

Background

Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the risk of breast cancer development.

Methods

A total of 518 patients with histopathologically confirmed breast cancer and 921 region- and age-matched cancer-free controls were genotyped for the APEX1 polymorphisms rs3136817 and rs1130409 and the OGG1 polymorphisms rs1052133 and rs2072668 using a QuantStudio™ 12 K Flex Real-Time PCR System.

Results

The rs3136817 heterozygous TC genotype along with the rs3136817 dominant model (TC + CC) was strongly associated with breast cancer susceptibility (odds ratio [OR] = 0.670, 95% confidence interval [95% CI]: 0.513 - 0.873, P = 0.003; OR = 0.682, 95% CI: 0.526 - 0.883, P = 0.004, respectively). No significant associations were observed among rs1130409, rs1052133, rs2072668 and breast cancer risk. Furthermore, an allele combination analysis revealed that APEX1 haplotypes containing C-T (alleles rs3136817 and rs1130409) conferred a significantly lower risk (corrected P < 0.001).

Conclusion

This research is the latest report showing that an APEX1 rs3136817 heterozygous genotype may have a positive influence on DNA repair capacity in patients with breast cancer and thus may have a potential protective effect for Chinese Han women.

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Zeng H, Zheng R, Guo Y, Zhang S, Zou X, Wang N, et al. Cancer survival in China, 2003-2005: a population-based study. Int J Cancer. 2015;136(8):1921–30. https://doi.org/10.1002/ijc.29227.CrossRefPubMed

Chen W, Zheng R, Zeng H, Zhang S, He J. Annual report on status of cancer in China, 2011. Chin J Cancer Res. 2015;27(1):2–12. https://doi.org/10.3978/j.issn.1000-9604.2015.01.06.CrossRefPubMedPubMedCentral

King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643–6. https://doi.org/10.1126/science.1088759.CrossRefPubMed

Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, et al. Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history. Breast Cancer Res Treat. 2014;144(3):635–42. https://doi.org/10.1007/s10549-014-2894-x.CrossRefPubMed

Liede A, Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat. 2002;20(6):413–24. https://doi.org/10.1002/humu.10154.CrossRefPubMed

Menashe I, Maeder D, Garcia-Closas M, Figueroa JD, Bhattacharjee S, Rotunno M, et al. Pathway analysis of breast cancer genome-wide association study highlights three pathways and one canonical signaling cascade. Cancer Res. 2010;70(11):4453–9. https://doi.org/10.1158/0008-5472.CAN-09-4502.CrossRefPubMedPubMedCentral

Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002;31(1):33–6. https://doi.org/10.1038/ng853.CrossRefPubMed

Long J, Cai Q, Sung H, Shi J, Zhang B, Choi JY, et al. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 2012;8(2):e1002532. https://doi.org/10.1371/journal.pgen.1002532.CrossRefPubMedPubMedCentral

Li J, Humphreys K, Heikkinen T, Aittomaki K, Blomqvist C, Pharoah PD, et al. A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat. 2011;126(3):717–27. https://doi.org/10.1007/s10549-010-1172-9.CrossRefPubMed

10.

Torgovnick A, Schumacher B. DNA repair mechanisms in cancer development and therapy. Front Genet. 2015;6:157. https://doi.org/10.3389/fgene.2015.00157.CrossRefPubMedPubMedCentral

11.

Matta J, Echenique M, Negron E, Morales L, Vargas W, Gaetan FS, et al. The association of DNA Repair with breast cancer risk in women. A comparative observational study. BMC Cancer. 2012;12:490. https://doi.org/10.1186/1471-2407-12-490.CrossRefPubMedPubMedCentral

12.

Yuan SS, Hou MF, Hsieh YC, Huang CY, Lee YC, Chen YJ, et al. Role of MRE11 in cell proliferation, tumor invasion, and DNA repair in breast cancer. J Natl Cancer Inst. 2012;104(19):1485–502. https://doi.org/10.1093/jnci/djs355.CrossRefPubMed

13.

Chaudhry MA. Base excision repair of ionizing radiation-induced DNA damage in G1 and G2 cell cycle phases. Cancer Cell Int. 2007;7:15. https://doi.org/10.1186/1475-2867-7-15.CrossRefPubMedPubMedCentral

14.

Jung HJ, Kim HL, Kim YJ, Weon JI, Seo YR. A novel chemopreventive mechanism of selenomethionine: enhancement of APE1 enzyme activity via a Gadd45a, PCNA and APE1 protein complex that regulates p53-mediated base excision repair. Oncol Rep. 2013;30(4):1581–6. https://doi.org/10.3892/or.2013.2613.CrossRefPubMedPubMedCentral

15.

Horton JK, Stefanick DF, Prasad R, Gassman NR, Kedar PS, Wilson SH. Base excision repair defects invoke hypersensitivity to PARP inhibition. Mol Cancer Res. 2014;12(8):1128–39. https://doi.org/10.1158/1541-7786.MCR-13-0502.CrossRefPubMedPubMedCentral

16.

Karahalil B, Bohr VA, Wilson DM 3rd. Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk. Hum Exp Toxicol. 2012;31(10):981–1005. https://doi.org/10.1177/0960327112444476.CrossRefPubMedPubMedCentral

17.

Kim KY, Han W, Noh DY, Kang D, Kwack K. Impact of genetic polymorphisms in base excision repair genes on the risk of breast cancer in a Korean population. Gene. 2013;532(2):192–6. https://doi.org/10.1016/j.gene.2013.09.069.CrossRefPubMed

18.

Roberts MR, Shields PG, Ambrosone CB, Nie J, Marian C, Krishnan SS, et al. Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis. 2011;32(8):1223–30. https://doi.org/10.1093/carcin/bgr096.CrossRefPubMedPubMedCentral

19.

Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, et al. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis. 2008;29(11):2132–8. https://doi.org/10.1093/carcin/bgn193.CrossRefPubMedPubMedCentral

20.

Wang T, Wang H, Guo H, Yang S, Zhu G, Guo H, et al. Polymorphisms in the DNA repair gene ERCC2/XPD and breast cancer risk: a HapMap-based case-control study among Han Women in a Chinese less-developed area. Genet Test Mol Biomarkers. 2014;18(10):703–10. https://doi.org/10.1089/gtmb.2014.0028.CrossRefPubMedPubMedCentral

21.

Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science. 2002;296(5576):2225–9. https://doi.org/10.1126/science.1069424.CrossRefPubMed

22.

Xu F, Li D, Zhang Q, Fu Z, Yuan W, Pang D, et al. Association of CD27 and CD70 gene polymorphisms with risk of sporadic breast cancer in Chinese women in Heilongjiang Province. Breast Cancer Res Treat. 2012;133(3):1105–13. https://doi.org/10.1007/s10549-012-1987-7.CrossRefPubMed

23.

Li Z, Zhang Z, He Z, Tang W, Li T, Zeng Z, et al. A partition-ligation-combination-subdivision EM algorithm for haplotype inference with multiallelic markers: update of the SHEsis (http://analysis.bio-x.cn). Cell Res. 2009;19(4):519–23. https://doi.org/10.1038/cr.2009.33.CrossRefPubMed

24.

Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15(2):97–8. https://doi.org/10.1038/sj.cr.7290272.CrossRefPubMed

25.

Namkung J, Kim K, Yi S, Chung W, Kwon MS, Park T. New evaluation measures for multifactor dimensionality reduction classifiers in gene-gene interaction analysis. Bioinformatics. 2009;25(3):338–45. https://doi.org/10.1093/bioinformatics/btn629.CrossRefPubMed

26.

Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics. 2003;19(3):376–82.CrossRefPubMed

27.

Deng L, Kimmel M, Foy M, Spitz M, Wei Q, Gorlova O. Estimation of the effects of smoking and DNA repair capacity on coefficients of a carcinogenesis model for lung cancer. Int J Cancer. 2009;124(9):2152–8. https://doi.org/10.1002/ijc.24149.CrossRefPubMedPubMedCentral

28.

Sangrajrang S, Schmezer P, Burkholder I, Waas P, Boffetta P, Brennan P, et al. Polymorphisms in three base excision repair genes and breast cancer risk in Thai women. Breast Cancer Res Treat. 2008;111(2):279–88. https://doi.org/10.1007/s10549-007-9773-7.CrossRefPubMed

29.

Zhu G, Su H, Lu L, Guo H, Chen Z, Sun Z, et al. Association of nineteen polymorphisms from seven DNA repair genes and the risk for bladder cancer in gansu province of China. Oncotarget. 2016; https://doi.org/10.18632/oncotarget.9146.

30.

Li H, Liu G, Xia L, Zhou Q, Xiong J, Xian J, et al. A polymorphism in the DNA repair domain of APEX1 is associated with the radiation-induced pneumonitis risk among lung cancer patients after radiotherapy. Br J Radiol. 2014;87(1040):20140093. https://doi.org/10.1259/bjr.20140093.CrossRefPubMedPubMedCentral

31.

Chang-Claude J, Ambrosone CB, Lilla C, Kropp S, Helmbold I, von Fournier D, et al. Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Br J Cancer. 2009;100(10):1680–6. https://doi.org/10.1038/sj.bjc.6605036.CrossRefPubMedPubMedCentral

32.

Mitra AK, Singh N, Singh A, Garg VK, Agarwal A, Sharma M, Chaturvedi R, Rath SK. Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women. Oncol Res. 2008;17(3):127–35.CrossRefPubMed

33.

Wolff AC, Hammond ME, Hicks DG, Dowsett M, McShane LM, Allison KH, et al. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update. J Clin Oncol. 2013;31(31):3997–4013. https://doi.org/10.1200/JCO.2013.50.9984.CrossRefPubMed

34.

Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst. 2009;101(10):736–50. https://doi.org/10.1093/jnci/djp082.CrossRefPubMedPubMedCentral

35.

de Azambuja E, Cardoso F, de Castro G Jr, Colozza M, Mano MS, Durbecq V, et al. Ki-67 as prognostic marker in early breast cancer: a meta-analysis of published studies involving 12,155 patients. Br J Cancer. 2007;96(10):1504–13. https://doi.org/10.1038/sj.bjc.6603756.CrossRefPubMedPubMedCentral

36.

Trihia H, Murray S, Price K, Gelber RD, Golouh R, Goldhirsch A, et al. Ki-67 expression in breast carcinoma: its association with grading systems, clinical parameters, and other prognostic factors--a surrogate marker? Cancer. 2003;97(5):1321–31. https://doi.org/10.1002/cncr.11188.CrossRefPubMed

37.

Dowsett M, Smith IE, Ebbs SR, Dixon JM, Skene A, A'Hern R, et al. Prognostic value of Ki67 expression after short-term presurgical endocrine therapy for primary breast cancer. J Natl Cancer Inst. 2007;99(2):167–70. https://doi.org/10.1093/jnci/djk020.CrossRefPubMed

Title: Association of APEX1 and OGG1 gene polymorphisms with breast cancer risk among Han women in the Gansu Province of China
Authors: Tao Wang
Haitao Wang
Suisheng Yang
Hongyun Guo
Binming Zhang
Huan Guo
Lan Wang
Gongjian Zhu
Yongdong Zhang
Haihong Zhou
Xiuli Zhang
Haining Li
Haixiang Su
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-018-0578-9

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Association of APEX1 and OGG1 gene polymorphisms with breast cancer risk among Han women in the Gansu Province of China

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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