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

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A Letter to the Editor to this article was published on 26 October 2018

Abstract

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.

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Acknowledgments

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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Authors and Affiliations

  1. Biotechnology Program/RENORBIO, Health Sciences Center, Federal University of Espirito Santo, Vitoria, Brazil

    Klesia Pirola Madeira, Renata Dalmaschio Daltoé, Gabriela Modenesi Sirtoli, Leticia Batista Azevedo Rangel & Ian Victor Silva

  2. Department of Zootechny, Federal University of Espirito Santo, Vitoria, Brazil

    Renata Dalmaschio Daltoé

  3. Department of Pathology, Health Sciences Center, Federal University of Espirito Santo, Vitoria, Brazil

    Alex Assis Carvalho

  4. Department of Morphology, Health Sciences Center, Federal University of Espirito Santo, Vitoria, Brazil

    Leticia Batista Azevedo Rangel

  5. Department of Pharmaceutical Sciences, Health Sciences Center, Federal University of Espirito Santo, Vitoria, Brazil

    Ian Victor Silva

  6. Department of Morphology, Campus Thomaz Tommasi, Health Sciences Center, Universidade Federal do Espirito Santo, 1st Floor, Room 05, Av Marechal Campos, 1468, Maruípe, Vitória, ES, 29043-900, Brazil

    Ian Victor Silva

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  1. Klesia Pirola Madeira
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Correspondence to Ian Victor Silva.

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Madeira, K.P., Daltoé, R.D., Sirtoli, G.M. et al. Estrogen receptor alpha (ERS1) SNPs c454-397T>C (PvuII) and c454-351A>G (XbaI) are risk biomarkers for breast cancer development. Mol Biol Rep 41, 5459–5466 (2014). https://doi.org/10.1007/s11033-014-3419-8

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  • DOI: https://doi.org/10.1007/s11033-014-3419-8

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