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Mutagenesis Advance Access published online on May 22, 2009

Mutagenesis, doi:10.1093/mutage/gep013
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© The Author 2009. Published by Oxford University Press on behalf of the UK Environmental Mutagen Society. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis

Yongsheng Huang1,2, Linguo Li1 and Long Yu1,*

1State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Science, Fudan University, Shanghai 200433, People's Republic of China 2Ben May Department for Cancer Research, University of Chicago, 929 East 57th Street, W325, Chicago, IL 60637, USA

X-ray repair cross-complementing group 1 (XRCC1) plays an important role in base excision and single-strand break repair, as a scaffold protein that brings together proteins of the DNA repair complex, and appears to be a candidate for cancer risk. However, studies on the association between polymorphisms in this protein and cancer have yielded conflicting results. We performed a meta-analysis to investigate the association between the breast cancer and the XRCC1 polymorphisms Arg194Trp (9411 cases and 9783 controls), Arg399Gln (22 481 cases and 23 905 controls) and Arg280His (6062 cases and 5864 controls) in different inheritance models. Our analysis suggested that Arg399Gln was associated with a trend of increased breast cancer risk when using both dominant [odds ratio (OR) = 1.06, 95% confidence interval (CI): 1.00–1.13] and recessive models (OR = 1.12, 95% CI: 1.02–1.23) to analyse the data. In ethnic subgroups and using recessive model analysis: Arg399Gln increased breast cancer risk in Asians (OR = 1.26, 95% CI: 0.96–1.64) and Africans (OR = 1.80, 95% CI: 0.97–3.32), and also while only slightly increasing the breast cancer risk in Caucasians (OR = 1.08, 95% CI: 0.95–1.22). However, Arg194Trp (recessive model, OR = 0.95, 95% CI: 0.75–1.20) and Arg280His (recessive model, OR = 1.28, 95% CI: 0.64–2.55) did not appear to be risk factors for breast cancer. Larger scale primary studies are required to further evaluate the interaction of XRCC1 polymorphisms and breast cancer risk in specific populations.

* To whom correspondence should be addressed. Tel: +86 021 65643404; Fax: +86 021 65643954; Email: longyu{at}fudan.edu.cn

Received on January 27, 2009; revised on April 8, 2009; accepted on April 14, 2009.


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