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Polymorphisms in ESR1 and FLJ43663 are associated with breast cancer risk in the Han population

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Tumor Biology

Abstract

Breast cancer is a heterogeneous disease which is influenced by genetic, environmental, and lifestyle factors. Genetic susceptibility is likely to be due to variants conferring more moderate risks. To identify susceptibility alleles, we conducted a case–control association study in 185 breast cancer cases and 199 controls in the Han population. We genotyped 14 tagging single nucleotide polymorphisms previously implicated in breast cancer using Sequenom MassARRAY SNP genotyping method and identified rs3734805 in the ESR1 gene and rs2048672 in the FLJ43663 gene were associated with breast cancer risk. Allele “C” of rs3734805 was associated with increased breast cancer progression by χ 2 test and additive model analysis (OR = 1.36; 95 % CI, 1.01–1.82; p = 0.042). Using recessive model analysis, we found that genotype “GG” of rs2048672 was the protective genotype during breast cancer progression (OR = 0.55; 95 % CI, 0.32–0.95; p = 0.029). Our results provide additional insights into the opposing roles of the ESR1 and FLJ43663 genes in breast cancer onset and progression.

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Acknowledgments

This work is supported by the National Natural Science Foundation of China (no. 81102026), Major Training Program of Tibet University for Nationalities (no. 13myZP06) and China Postdoctoral Science Foundation funded project (no. 2013M532078).

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Authors and Affiliations

  1. School of Life Sciences, Northwest University, Xi’an, 710069, China

    Peng Xia, Tianbo Jin, Xiaolan Li & Chao Chen

  2. National Engineering Research Center for Miniaturized Detection Systems, Xi’an, 710069, China

    Peng Xia, Tianbo Jin, Tingting Geng, Ting Sun, Xiaolan Li & Chao Chen

  3. Department of Oncology, First Affiliated Hospital, Xi’an Jiaotong University, Xi’an, 710061, China

    Peng Xia & Chengxue Dang

  4. Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, 712082, China

    Tianbo Jin & Longli Kang

  5. Department of Outpatient, First Affiliated Hospital, Xi’an Jiaotong University, Xi’an, 710061, China

    Jiying Sun

  6. Mailbox 386, No. 229 North Taibai Road, Xi’an, 710069, Shaanxi, China

    Chao Chen

  7. No. 277, Yanta West Road, Xi’an, Shaanxi Province, China

    Jiying Sun

Authors
  1. Peng Xia
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  2. Tianbo Jin
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  3. Tingting Geng
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  4. Ting Sun
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  5. Xiaolan Li
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  6. Chengxue Dang
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  7. Longli Kang
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  8. Chao Chen
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  9. Jiying Sun
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Correspondence to Chao Chen or Jiying Sun.

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Peng Xia and Tianbo Jin are joint first authors.

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Xia, P., Jin, T., Geng, T. et al. Polymorphisms in ESR1 and FLJ43663 are associated with breast cancer risk in the Han population. Tumor Biol. 35, 2187–2190 (2014). https://doi.org/10.1007/s13277-013-1289-7

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  • DOI: https://doi.org/10.1007/s13277-013-1289-7

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