ESR1 single nucleotide polymorphisms predict breast cancer susceptibility in the central European Caucasian population.

Int J Clin Exp Med

Department of Internal Medicine, Division of Immunotherapy and Gene Therapy, José Carreras Research Center, Saarland University Medical Center D-66421 Homburg/Saar, Germany.

Published: May 2013

AI Article Synopsis

  • * The study analyzed 7 genetic variants in the ESR1 gene to determine their impact on breast cancer risk among 221 patients and 221 controls.
  • * Two specific genetic variants (SNPs) were linked to increased breast cancer susceptibility, particularly in Central European Caucasian women, suggesting they could serve as new markers for assessing risk and outcomes.

Article Abstract

Estrogen and progesterone hormones are key regulators of a wide variety of biological processes. In addition to their influence on reproduction, cell differentiation and apoptosis, they affect inflammatory response, cell metabolism and most importantly, they regulate physiological breast tissue proliferation and differentiation as well as the development and progression of breast cancer. In order to assess whether genetic variants in the steroid hormone receptor gene ESR1 (estrogen receptor alpha) had an effect on sporadic breast cancer susceptibility, we assessed 7 ESR1 single nucleotide polymorphisms (SNPs) for associations with breast cancer susceptibility and clinical parameters in 221 breast cancer patients and 221 controls, respectively. We identified ESR1 intron SNP +2464 C/T (rs3020314) and ESR1 intron SNP -4576 A/C (rs1514348) to correlate with breast cancer susceptibility and progesterone receptor expression status. Patients genotyped CT for ESR1 intron SNP +2464 (rs3020314) (p ≤ 0.045) or genotyped AC for ESR1 intron SNP -4576 (rs1514348) (p ≤ 0.000026) were identified to carry a significant risk as to the development of breast cancer in the Central European Caucasian population (both together: p ≤ 0.000488). Our study could confirm previous associations and revealed new associations of SNP rs1514348 with susceptibility to breast cancer and clinical outcome, which might be used as new additional SNP markers.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631553PMC

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