Breast Cancer Research and Treatment

, Volume 163, Issue 1, pp 131–138 | Cite as

A polygenic risk score for breast cancer risk in a Taiwanese population

  • Yi-Chen Hsieh
  • Shih-Hsin Tu
  • Chien-Tien Su
  • Er-Chieh Cho
  • Chih-Hsiung Wu
  • Mao-Chih Hsieh
  • Shiyng-Yu Lin
  • Yun-Ru Liu
  • Chin-Sheng HungEmail author
  • Hung-Yi ChiouEmail author



Multiple common variants identified by genome-wide association studies showed limited evidence of the risk of breast cancer in Taiwan. In this study, we analyzed the breast cancer risk in relation to 13 individual single-nucleotide polymorphisms (SNPs) identified by a GWAS in an Asian population.


In total, 446 breast cancer patients and 514 healthy controls were recruited for this case–control study. In addition, we developed a polygenic risk score (PRS) including those variants significantly associated with breast cancer risk, and also evaluated the contribution of PRS and clinical risk factors to breast cancer using receiver operating characteristic curve (AUC).


Logistic regression results showed that nine individual SNPs were significantly associated with breast cancer risk after multiple testing. Among all SNPs, six variants, namely FGFR2 (rs2981582), HCN1 (rs981782), MAP3K1 (rs889312), TOX3 (rs3803662), ZNF365 (rs10822013), and RAD51B (rs3784099), were selected to create PRS model. A dose–response association was observed between breast cancer risk and the PRS. Women in the highest quartile of PRS had a significantly increased risk compared to women in the lowest quartile (odds ratio 2.26; 95% confidence interval 1.51–3.38). The AUC for a model which contained the PRS in addition to clinical risk factors was 66.52%, whereas that for a model which with established risk factors only was 63.38%.


Our data identified a genetic risk predictor of breast cancer in Taiwanese population and suggest that risk models including PRS and clinical risk factors are useful in discriminating women at high risk of breast cancer from those at low risk.


Breast cancer Polygenic risk score Common variants Risk prediction 



This study was supported by the Health and Welfare Surcharge of Tobacco Products, Ministry of Health and Welfare to the Comprehensive Cancer Center of Taipei Medical University (MOHW105-TDU-B-212-134001), Taipei Medical University Hospital (103TMU-TMUH-09), Taipei Medical University (TMU102-AE1-B03), and the Top University Project- Cancer Translational Center of Taipei Medical University.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Yi-Chen Hsieh
    • 1
  • Shih-Hsin Tu
    • 2
    • 3
    • 4
  • Chien-Tien Su
    • 5
    • 6
  • Er-Chieh Cho
    • 7
  • Chih-Hsiung Wu
    • 8
  • Mao-Chih Hsieh
    • 9
  • Shiyng-Yu Lin
    • 6
  • Yun-Ru Liu
    • 10
  • Chin-Sheng Hung
    • 2
    • 3
    • 4
    Email author
  • Hung-Yi Chiou
    • 11
    Email author
  1. 1.Graduate Institute of Neural Regenerative Medicine, College of Medical Science and TechnologyTaipei Medical UniversityTaipeiTaiwan
  2. 2.Department of Surgery, School of Medicine, College of MedicineTaipei Medical UniversityTaipeiTaiwan
  3. 3.Taipei Cancer CenterTaipei Medical UniversityTaipeiTaiwan
  4. 4.Breast Medical CenterTaipei Medical University HospitalTaipeiTaiwan
  5. 5.School of Public Health, College of Public Health and NutritionTaipei Medical UniversityTaipeiTaiwan
  6. 6.Department of Family Medicine, School of Medicine, College of MedicineTaipei Medical UniversityTaipeiTaiwan
  7. 7.Department of Clinical Pharmacy, School of Pharmacy, College of PharmacyTaipei Medical UniversityTaipeiTaiwan
  8. 8.Department of SurgeryTaipei Medical University-Shuang Ho HospitalTaipeiTaiwan
  9. 9.Department of SurgeryTaipei Medical University-Wan Fang HospitalTaipeiTaiwan
  10. 10.Joint Biobank, Office of Human ResearchTaipei Medical UniversityTaipeiTaiwan
  11. 11.School of Public Health, College of Public Health and NutritionTaipei Medical UniversityTaipeiTaiwan

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