Breast Cancer Research This Provisional PDF corresponds to the article as it appeared upon acceptance Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon Breast cancer risk assessment with five independent genetic variants and two risk factors in chinese women Breast Cancer Research 2012, 14:R17 doi:10.1186/bcr3101 Juncheng Dai (djcepi@gmail.com) Zhibin Hu (hzhibin@gmail.com) Yue Jiang (jiangyue0203@gmail.com) Hao Shen (shayejia@gmail.com) Jing Dong (cindydongjing@gmail.com) Hongxia Ma (mahongxia927@gmail.com) Hongbing Shen (hbshen@njmu.edu.cn) ISSN Article type 1465-5411 Research article Submission date June 2011 Acceptance date 23 January 2012 Publication date 23 January 2012 Article URL http://breast-cancer-research.com/content/14/1/R17 This peer-reviewed article was published immediately upon acceptance It can be downloaded, printed and distributed freely for any purposes (see copyright notice below) Articles in Breast Cancer Research are listed in PubMed and archived at PubMed Central For information about publishing your research in Breast Cancer Research go to http://breast-cancer-research.com/authors/instructions/ © 2012 Dai et al ; licensee BioMed Central Ltd This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women Juncheng Dai1,2,3, Zhibin Hu1,2,3, Yue Jiang1, Hao Shen1, Jing Dong1, Hongxia Ma1, Hongbing Shen1,2,3,* National Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China; Department of Epidemiology and Biostatistics & Ministry of Education Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing 210029, China; Section of Clinical Epidemiology, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing 210029, China * Corresponding author: hbshen@njmu.edu.cn Abstract Introduction: Recently, several genome-wide association studies (GWAS) have identified novel single nucleotide polymorphisms (SNPs) associated with breast cancer risk However, most of the studies were conducted among Caucasians and only one from Chinese Methods: In the current study, we first tested whether 15 SNPs identified by previous GWAS were also breast cancer marker SNPs in this Chinese population Then, we grouped the marker SNPs, and modeled them with clinical risk factors, to see the usage of these factors in breast cancer risk assessment Two methods (risk factors counting and OR weighted risk scoring) were used to evaluate the cumulative effects of the significant SNPs and two clinical risk factors (age at menarche and age at first live birth) Results: Five SNPs located at 2q35, 3p24, 6q22, 6q25 and 10q26 were consistently associated with breast cancer risk in both testing set (878 cases and 900 controls) and validation set (914 cases and 967 controls) samples Overall, all of the five SNPs contributed to breast cancer susceptibility in dominant genetic model (2q35, rs13387042: adjusted OR=1.26, P=0.006; 3q24.1, rs2307032: adjusted OR=1.24, P=0.005; 6q22.33, rs2180341: adjusted OR=1.22, P=0.006; 6q25.1, rs2046210: adjusted OR=1.51, P=2.40×10-8; 10q26.13, rs2981582: adjusted OR=1.31, P=1.96×10-4) Risk score analyses (AUC: 0.649, 95%CI: 0.631-0.667; sensitivity=62.60%, specificity=57.05%) presented better discrimination than that by risk factors counting (AUC: 0.637, 95%CI: 0.619-0.655; sensitivity=62.16%, specificity=60.03%) (P