Molecular Biology Reports

, Volume 41, Issue 8, pp 5459–5466 | Cite as

Estrogen receptor alpha (ERS1) SNPs c454-397T>C (PvuII) and c454-351A>G (XbaI) are risk biomarkers for breast cancer development

  • Klesia Pirola Madeira
  • Renata Dalmaschio Daltoé
  • Gabriela Modenesi Sirtoli
  • Alex Assis Carvalho
  • Leticia Batista Azevedo Rangel
  • Ian Victor SilvaEmail author


There are several risk factors related to Breast Cancer (BC) risks and response to chemotherapy with SERMs. Recently some single nucleotide polymorphisms (SNPs) on ESR1 gene have been associated to this disease. However, data are still inconclusive. The present study aimed to investigate the association of SNPs c454-397T>C (also called PvuII) and c454-351A>G (so called XbaI) to incidence of sporadic BC; ERα expression in BC; tamoxifen hormonetherapy (HT-TMX) responsiveness. To do so, a cohort of BC patients was analyzed through retrospective data collection, immunohistochemistry to ERα protein, and genotyping for PvuII and XbaI SNPs by PCR–RFLP, confirmed by sequencing. Significant difference in PvuII alleles frequencies were found BC patients when compared to control samples. Patients with P allele have a 5.14-fold increased BC risk. We found higher P and X alleles frequencies in ERα positive BC and the pp and xx genotypes were observed exclusively in patients with HT-TMX-responsive BC. Taken together, data indicates that P allele as a novel sporadic BC biomarker whereas p and x alleles enhanced chemotherapy responsiveness.


Estrogen Receptor Polymorphism Breast cancer Tamoxifen 



This paper was accomplished with grants from CNPq, CAPES, FAPES, and FACITEC from IVS to LBAR.

Declaration of Interest

The authors report no conflicts of interest.


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Klesia Pirola Madeira
    • 1
  • Renata Dalmaschio Daltoé
    • 1
    • 2
  • Gabriela Modenesi Sirtoli
    • 1
  • Alex Assis Carvalho
    • 3
  • Leticia Batista Azevedo Rangel
    • 1
    • 4
  • Ian Victor Silva
    • 1
    • 5
    • 6
    Email author
  1. 1.Biotechnology Program/RENORBIO, Health Sciences CenterFederal University of Espirito SantoVitoriaBrazil
  2. 2.Department of ZootechnyFederal University of Espirito SantoVitoriaBrazil
  3. 3.Department of PathologyHealth Sciences Center, Federal University of Espirito SantoVitoriaBrazil
  4. 4.Department of MorphologyHealth Sciences Center, Federal University of Espirito SantoVitoriaBrazil
  5. 5.Department of Pharmaceutical SciencesHealth Sciences Center, Federal University of Espirito SantoVitoriaBrazil
  6. 6.Department of Morphology, Campus Thomaz Tommasi, Health Sciences CenterUniversidade Federal do Espirito SantoVitóriaBrazil

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