Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy

Adedayo A. Onitilo, Catherine A. McCarty, Russell A. Wilke, Ingrid Glurich, Jessica M. Engel, David A. Flockhart, Anne Nguyen, Lang Li, Deming Mi, Todd C. Skaar, Yan Jin

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Thromboembolism is a serious complication of tamoxifen therapy in women with breast cancer. Banked DNA from tamoxifen-treated individuals with breast cancer from the Marshfield Clinic Personalized Medicine Research Project, a population-based DNA repository, was tested for association between incidence of tamoxifen-associated thromboembolic events (TTE) and single nucleotide polymorphisms encoding the estrogen receptors 1,2 (ESR1, ESR2) or drug metabolism enzymes cytochrome P450 2D6 (CYP2D6) and aromatase (CYP19). TTE were experienced by 16/220 subjects with risk association noted for XbaI (rs9340799) genotype and ESR1 Xbal/PvuII diplotype (rs9340799 and rs2234693) (hazard ratio 3.47, 95% CI 0.97-12.44, P = 0.035). Association persisted after adjusting for classical risk factors including age at diagnosis and body mass index at enrollment. Initial evidence of association between increased risk for TTE and ESR1 genotype and ESR1 diplotype is presented. Determination of estrogen receptor genotype may identify a subset of women at increased risk for thromboembolism with tamoxifen exposure.

Original languageEnglish (US)
Pages (from-to)643-650
Number of pages8
JournalBreast Cancer Research and Treatment
Issue number3
StatePublished - Jun 2009

Bibliographical note

Funding Information:
Acknowledgments This study was supported in part by Marshfield Clinic Research Foundation Disease Specific Restricted Funds. We thank Marshfield Clinic Research Foundation for its support through the assistance of Alice Stargardt in the preparation of this manuscript.


  • Breast cancer
  • Estrogen receptors
  • PvuII
  • Tamoxifen
  • Thromboembolization
  • XbaI


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