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Genetic polymorphism of ESR1 rs2881766 increases breast cancer risk in Korean women

  • Byung Ho Son
  • Mi Kyung Kim
  • Young Mi Yun
  • Hee Jeong Kim
  • Jong Han Yu
  • Beom Seok Ko
  • Hanna Kim
  • Sei Hyun Ahn
Original Article - Cancer Research

Abstract

Purpose

We performed a case–control study to evaluate the association of genetic polymorphisms of estrogen-metabolizing enzyme genes and estrogen receptor genes with breast cancer risk according to age group and subtypes in Korean women.

Methods

Breast cancer patients (n = 830) and the hospital healthy controls (n = 390) with both clinical information and SNP data were included in the study. Age was divided into three groups: premenopausal under 35 years (n = 64), premenopausal over 35 years (n = 456), and postmenopausal women (n = 310), respectively. Tumor subtype was classified into four subtypes: luminal A, luminal B, HER2-overexpressing, and triple-negative, respectively. Genotyping of the selected SNPs in ESR1, ESR2, CYP1A1, CYP1B1, and COMT was conducted using the VeraCode Golden Gate Genotyping Assay Technology. Multiple logistic regression models (dominant, recessive, and additive) were applied to determine the odds ratio, 95 % confidence interval, and p value.

Results

ESR1, rs2881766, rs2077647, rs926778, and rs2273206 polymorphisms increased breast cancer risk, and rs3798377 decreased the risk in overall patients. The association between SNP genotype and breast cancer risk was varied according to age groups and tumor subtypes. For age subgroups, rs2881766 increased breast cancer risk in the all three age groups, and rs926778 increased the risk in premenopausal over 35 years women and in postmenopausal women. For the tumor subtypes, rs2881766 increased breast cancer risk manly in luminal A, HER2-overexpressing, and triple-negative subtypes except for luminal B subtype, and rs926778 increased the risk in luminal A and triple-negative subtypes. Rs3798577 decreased the risk in luminal B and triple-negative subtypes.

Conclusion

The results showed that ESR1 rs2881766 polymorphism increased breast cancer risk and rs3798377 decreased the risk in Korean women. Because of wide variation of the association between SNP genotype and breast cancer risk according to age group and tumor subtypes, further studies such as a large-scale cohort study need for validation and test of biologic significance.

Keywords

Breast cancer Genetic polymorphism Estrogen-metabolizing enzyme Estrogen receptor gene Age Subtype 

Notes

Acknowledgments

This study was supported by a Grant (2009-022) from the Asan Institute for Life Sciences, Seoul, Korea.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

432_2014_1849_MOESM1_ESM.docx (63 kb)
Supplementary material 1 (DOCX 62 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Byung Ho Son
    • 1
  • Mi Kyung Kim
    • 2
  • Young Mi Yun
    • 1
  • Hee Jeong Kim
    • 1
  • Jong Han Yu
    • 1
  • Beom Seok Ko
    • 1
  • Hanna Kim
    • 1
  • Sei Hyun Ahn
    • 1
    • 3
  1. 1.Department of Surgery, College of Medicine, Asan Medical CenterUniversity of UlsanSeoulKorea
  2. 2.Cancer Epidemiology Branch, Division of Cancer Epidemiology and Management, Research InstituteNational Cancer CenterGoyangKorea
  3. 3.Division of Breast and Endocrine Surgery, Department of Surgery, Asan Medical Center, College of MedicineUniversity of UlsanSeoulKorea

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