Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs

  • Guan, Yan-Ping (Breast Center Nanfang Hospital, Southern Medical University) ;
  • Yang, Xue-Xi (School of Biotechnology, Southern Medical University) ;
  • Yao, Guang-Yu (Breast Center Nanfang Hospital, Southern Medical University) ;
  • Qiu, Fei (School of Biotechnology, Southern Medical University) ;
  • Chen, Jun (Breast Center Nanfang Hospital, Southern Medical University) ;
  • Chen, Lu-Jia (Breast Center Nanfang Hospital, Southern Medical University) ;
  • Ye, Chang-Sheng (Breast Center Nanfang Hospital, Southern Medical University) ;
  • Li, Ming (School of Biotechnology, Southern Medical University)
  • Published : 2014.01.15
Download PDF
⟨ Previous Next ⟩

Abstract

Background: Genome-wide association studies (GWAS) have identified various genetic susceptibility loci for breast cancer based mainly on European-ancestry populations. Differing linkage disequilibrium patterns exist between European and Asian populations. Methods: Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratification analyses were carried out based on the estrogen receptor (ER) and progesterone receptor (PR) status. Results: Among the 10 SNPs, rs10941679 showed significant association with breast cancer when differences between the case and control groups in this Han Chinese population were compared (30.09% GG, 45.4% GA and 23.7% AA; P = 0.012). Four SNPs (rs311499, rs1045485, rs12964873 and rs8170) showed no polymorphisms in our study. The remaining five SNPs showed no association with breast cancer in the present population. Immunohistochemical tests showed that rs2075555 was associated with ER status; the AA genotype showed greater association with ER negative than ER positive (OR = 0.54, 95% CI, 0.29-0.99; P = 0.046). AA of rs7166081 was also associated with ER status, but showed a greater association with ER positive than negative (OR = 1.59, 95% CI = 1.04-2.44; P = 0.031). However, no significant associations were found among the SNPs and PR status. Conclusion: In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. Therefore, confirmation studies are necessary before utilization of these loci in Chinese.

Keywords

References

  1. Anderson WF, Chu KC, Chatterjee N, et al (2001). Tumor variants by hormone receptor expression in white patients with node-negative breast cancer from the surveillance, epidemiology, and end results database. J Clin Oncol, 19, 18-27.
  2. Campa D, Kaaks R, Le Marchand L, et al (2011). Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst, 103, 1252-63. https://doi.org/10.1093/jnci/djr265
  3. Chan M, Ji SM, Liaw CS, et al (2012). Association of common genetic variants with breast cancer risk and clinic opathological characteristics in a Chinese population. Breast Cancer Res Treat, 136, 209-20. https://doi.org/10.1007/s10549-012-2234-y
  4. Couch FJ, Gaudet MM, Antoniou AC, et al (2012). Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 21, 645-57. https://doi.org/10.1158/1055-9965.EPI-11-0888
  5. Dunnwald LK, Rossing MA, Li CI (2007). Hormone receptor status, tumor characteristics, and prognosis: a prospective cohort of breast cancer patients. Breast Cancer Res, 9, R6. https://doi.org/10.1186/bcr1639
  6. Easton DF, Pooley KA, Dunning AM, et al (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447, 1087-93. https://doi.org/10.1038/nature05887
  7. Li H, Beeghly-Fadiel A, Wen W, et al (2013). Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. Am J Epidemiol, 177, 161-70. https://doi.org/10.1093/aje/kws238
  8. Hunter DJ, Kraft P, Jacobs KB, et al (2007). A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet, 39, 870-4. https://doi.org/10.1038/ng2075
  9. Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. https://doi.org/10.3322/caac.20107
  10. Jemal A, Siegel R, Ward E, et al (2006). Cancer statistics. CA Cancer J Clin, 56, 106-30. https://doi.org/10.3322/canjclin.56.2.106
  11. Murabito JM, Rosenberg CL, Finger D, et al (2007). A genomewide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. BMC Medical Genetics, 8, S6 https://doi.org/10.1186/1471-2350-8-S1-S6
  12. Long J, Shu XO, Cai Q, et al (2010). Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev, 19, 2357-65. https://doi.org/10.1158/1055-9965.EPI-10-0054
  13. Mario, G., Rachel, SC., Kent, O., et al. (2011). Biological mechanisms and clinical implications of endocrine resistance in breast cancer. The Breast, 20S3, S42-9.
  14. McCracken M, Olsen M, Chen MS Jr, et al (2007). Cancer incidence, mortality, and associated risk factors among Asian Americans of Chinese, Filipino, Vietnamese, Korean, and Japanese ethnicities. CA Cancer J Clin, 57, 190-205. https://doi.org/10.3322/canjclin.57.4.190
  15. Pharoah PD, Antoniou AC, Easton DF, et al (2008). Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med, 358, 2796-803. https://doi.org/10.1056/NEJMsa0708739
  16. Raskin L, Pinchev M, Arad C, et al (2008). FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Cancer Epidemiol Biomarkers Prev, 17, 1060-5. https://doi.org/10.1158/1055-9965.EPI-08-0018
  17. Stacey SN, Manolescu A, Sulem P, et al (2008). Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet, 40, 703-6. https://doi.org/10.1038/ng.131
  18. Sueta A, Ito H, Kawase T, Hirose K, et al (2012). A genetic risk predictor for breast cancer using a combination of lowpenetrance polymorphisms in a Japanese population. Breast Cancer Res Treat, 132, 711-21. https://doi.org/10.1007/s10549-011-1904-5
  19. Walker LC, Fredericksen ZS, Wang X, et al (2010). Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res, 12, R102. https://doi.org/10.1186/bcr2785
  20. Walsh T, King MC (2007). Ten genes for inherited breast cancer. Cancer Cell, 11, 103-5. https://doi.org/10.1016/j.ccr.2007.01.010
  21. Yu KD, Di GH, Wu J, et al (2007). Development and trends of surgical modalities for breast cancer in China: a review of 16-year data. Ann Surg Oncol, 14, 2502-9. https://doi.org/10.1245/s10434-007-9436-2
  22. Zheng W, Long J, Gao YT, et al (2009). Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet, 41, 324-8. https://doi.org/10.1038/ng.318

Cited by

  1. A Functional SNP in the MDM2 Promoter Mediates E2F1 Affinity to Modulate Cyclin D1 Expression in Tumor Cell Proliferation vol.15, pp.8, 2014, https://doi.org/10.7314/APJCP.2014.15.8.3817
  2. Investigation of the association of Vogt–Koyanagi–Harada syndrome with IL23R-C1orf141 in Han Chinese Singaporean and ADO-ZNF365-EGR2 in Thai vol.100, pp.3, 2016, https://doi.org/10.1136/bjophthalmol-2015-307366
  3. A Pilot Genome-wide Association Study of Breast Cancer Susceptibility Loci in Indonesia vol.16, pp.6, 2015, https://doi.org/10.7314/APJCP.2015.16.6.2231
  4. The Associations of Genetic Variants in E-cadherin Gene With Clinical Outcome of Epithelial Ovarian Cancer vol.26, pp.9, 2016, https://doi.org/10.1097/IGC.0000000000000829
  5. -recognized acetyldegron vol.130, pp.20, 2017, https://doi.org/10.1242/jcs.206904
  6. Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort pp.1880-5779, 2018, https://doi.org/10.1266/ggs.17-00053