Skip to main content

Advertisement

SpringerLink
Log in

The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involving 22,766 subjects

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

To date, many publications discussed the correlation between ERCC2 Asp312Asn polymorphism and breast cancer risk. However, the results were not unanimous. In order to derive a more precise conclusion, a meta-analysis was performed in this study by searching Medline, PubMed, and ISI Web of Knowledge databases. Finally, 17 studies including 12,019 cases and 10,747 controls were collected for this meta-analysis. The strength of association between ERCC2 Asp312Asn polymorphism and breast cancer risk was assessed by calculating crude ORs with 95% CIs. Overall, no significant associations between ERCC2 Asp312Asn polymorphism and breast cancer susceptibility were found. In the stratified analysis by ethnicity, significant associations were observed for Asn/Asn versus Asp/Asp (OR = 0.55; 95% CI 0.32–0.96) and Asn/Asn versus Asn/Asp + Asp/Asp (OR = 0.53; 95% CI 0.32–0.90) in Asians. In the stratified analysis by study design, significant associations were found for Asn/Asn versus Asp/Asp (OR = 0.79; 95% CI 0.64–0.98) and Asn/Asn versus Asn/Asp + Asp/Asp (OR = 0.82; 95% CI 0.68–0.99) in population-based studies. In conclusion, this meta-analysis provides an evidence that ERCC2 312Asn allele may have a protective effect for breast cancer development in Asians.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ (2009) Cancer statistics, 2009. CA Cancer J Clin 59:225–249

    Article  PubMed  Google Scholar 

  2. Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Harris EL, Sanford KK, Bell DA (2000) XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis 21:551–555

    Article  CAS  PubMed  Google Scholar 

  3. Bernstein C, Bernstein H, Payne CM, Garewal H (2002) DNA repair/pro-apoptotic dual-role proteins in five major DNA repair pathways: fail-safe protection against carcinogenesis. Mutat Res 511:145–178

    Article  CAS  PubMed  Google Scholar 

  4. Wang XW, Vermeulen W, Coursen JD, Gibson M, Lupold SE, Forrester K, Xu G, Elmore L, Yeh H, Hoeijmakers JH, Harris CC (1996) The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev 10:1219–1232

    Article  CAS  PubMed  Google Scholar 

  5. Manuguerra M, Saletta F, Karagas MR, Berwick M, Veglia F, Vineis P, Matullo G (2006) XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am J Epidemiol 164:297–302

    Article  PubMed  Google Scholar 

  6. Wang F, Chang D, Hu FL, Sui H, Han B, Li DD, Zhao YS (2008) DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies. Cancer Epidemiol Biomark Prev 17:507–517

    Article  CAS  Google Scholar 

  7. Seker H, Butkiewicz D, Bowman ED, Rusin M, Hedayati M, Grossman L, Harris CC (2001) Functional significance of XPD polymorphic variants: attenuated apoptosis in human lymphoblastoid cells with the XPD 312 Asp/Asp genotype. Cancer Res 61:7430–7434

    CAS  PubMed  Google Scholar 

  8. Tang D, Cho S, Rundle A, Chen S, Phillips D, Zhou J, Hsu Y, Schnabel F, Estabrook A, Perera FP (2002) Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. Breast Cancer Res Treat 75:159–166

    Article  CAS  PubMed  Google Scholar 

  9. Försti A, Angelini S, Festa F, Sanyal S, Zhang Z, Grzybowska E, Pamula J, Pekala W, Zientek H, Hemminki K, Kumar R (2004) Single nucleotide polymorphisms in breast cancer. Oncol Rep 11:917–922

    PubMed  Google Scholar 

  10. Justenhoven C, Hamann U, Pesch B, Harth V, Rabstein S, Baisch C, Vollmert C, Illig T, Ko YD, Brüning T, Brauch H (2004) ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomark Prev 13:2059–2064

    CAS  Google Scholar 

  11. Shi Q, Wang LE, Bondy ML, Brewster A, Singletary SE, Wei Q (2004) Reduced DNA repair of benzo[a]pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. Carcinogenesis 25:1695–1700

    Article  CAS  PubMed  Google Scholar 

  12. Kuschel B, Chenevix-Trench G, Spurdle AB, Chen X, Hopper JL, Giles GG, McCredie M, Chang-Claude J, Gregory CS, Day NE, Easton DF, Ponder BA, Dunning AM, Pharoah PD (2005) Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiol Biomark Prev 14:1828–1831

    Article  CAS  Google Scholar 

  13. Lee SA, Lee KM, Park WY, Kim B, Nam J, Yoo KY, Noh DY, Ahn SH, Hirvonen A, Kang D (2005) Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp Mol Med 37:86–90

    CAS  PubMed  Google Scholar 

  14. Zhang L, Zhang Z, Yan W (2005) Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. Clin Chim Acta 359:150–155

    Article  CAS  PubMed  Google Scholar 

  15. Debniak T, Scott RJ, Huzarski T, Byrski T, Masojć B, van de Wetering T, Serrano-Fernandez P, Górski B, Cybulski C, Gronwald J, Debniak B, Maleszka R, Kładny J, Bieniek A, Nagay L, Haus O, Grzybowska E, Wandzel P, Niepsuj S, Narod SA, Lubinski J (2006) XPD common variants and their association with melanoma and breast cancer risk. Breast Cancer Res Treat 98:209–215

    Article  CAS  PubMed  Google Scholar 

  16. Mechanic LE, Millikan RC, Player J, de Cotret AR, Winkel S, Worley K, Heard K, Heard K, Tse CK, Keku T (2006) Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study. Carcinogenesis 27:1377–1385

    Article  CAS  PubMed  Google Scholar 

  17. Shen J, Desai M, Agrawal M, Kennedy DO, Senie RT, Santella RM, Terry MB (2006) Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer. Cancer Epidemiol Biomark Prev 15:1614–1619

    Article  CAS  Google Scholar 

  18. Crew KD, Gammon MD, Terry MB, Zhang FF, Zablotska LB, Agrawal M, Shen J, Long CM, Eng SM, Sagiv SK, Teitelbaum SL, Neugut AI, Santella RM (2007) Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. Cancer Epidemiol Biomark Prev 16:2033–2041

    Article  CAS  Google Scholar 

  19. Jorgensen TJ, Visvanathan K, Ruczinski I, Thuita L, Hoffman S, Helzlsouer KJ (2007) Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res Treat 101:65–71

    Article  CAS  PubMed  Google Scholar 

  20. Bernard-Gallon D, Bosviel R, Delort L, Fontana L, Chamoux A, Rabiau N, Kwiatkowski F, Chalabi N, Satih S, Bignon YJ (2008) DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk. Mol Cancer 7:36

    Article  PubMed  Google Scholar 

  21. Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, Liu-Mares W, Hu JJ (2008) Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 29:2132–2138

    Article  CAS  PubMed  Google Scholar 

  22. Jakubowska A, Gronwald J, Menkiszak J, Górski B, Huzarski T, Byrski T, Tołoczko-Grabarek A, Gilbert M, Edler L, Zapatka M, Eils R, Lubiński J, Scott RJ, Hamann U (2010) BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms. Breast Cancer Res Treat 119:201–211

    Article  PubMed  Google Scholar 

  23. Cochran WG (1954) The combination of estimates from different experiments. Biometrics 10:101–129

    Article  Google Scholar 

  24. Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22:719–748

    CAS  PubMed  Google Scholar 

  25. DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188

    Article  CAS  PubMed  Google Scholar 

  26. Egger M, Smith GD, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315:629–634

    CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by National 973 Programs of China Grants 2004CB518605, the National 863 Project of China Grants 2006AA020501, and the National Key Sci-Tech Special Project of China Grants 2008ZX10002-020.

Author information

Authors and Affiliations

  1. State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, People’s Republic of China

    Lei Yao, Lu Yu, Xia-Jia Yu & Long Yu

  2. Department of Medical Oncology, Cancer Hospital, Fudan University, Shanghai, People’s Republic of China

    Li-Xin Qiu & Xi-Chun Hu

  3. Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, People’s Republic of China

    Li-Xin Qiu & Xi-Chun Hu

  4. Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University, Shanghai, People’s Republic of China

    Lei Yao, Zhen Yang & Yang Zhong

  5. Institutes of Biomedical Sciences, Fudan University, Shanghai, People’s Republic of China

    Long Yu

Authors
  1. Lei Yao
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Li-Xin Qiu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Lu Yu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Zhen Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Xia-Jia Yu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yang Zhong
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Xi-Chun Hu
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Long Yu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Long Yu.

Additional information

Lei Yao and Li-Xin Qiu contributed equally to this work and should be considered as co-first authors.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yao, L., Qiu, LX., Yu, L. et al. The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involving 22,766 subjects. Breast Cancer Res Treat 123, 227–231 (2010). https://doi.org/10.1007/s10549-010-0754-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-010-0754-x

Keywords

Search

Navigation