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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2013;6(4):282-288
Original Article
ESR1 single nucleotide polymorphisms predict breast cancer suscep-tibility in the
central European Caucasian population
Mark F Lipphardt, Mustafa Deryal, Mei Fang Ong, Werner Schmidt, Ulrich Mahlknecht
Department of Internal Medicine, Division of Immunotherapy and Gene Therapy, José Carreras Research Center, Saarland University
Medical Center, D-66421 Homburg/Saar, Germany; Saarland University Medical Center, Department of Obstetrics and Gynecology,
Homburg/Saar, Germany; Institute of Medical Biometrics, Epidemiology and Medical Informatics, Saarland University, D-66421
Homburg/Saar, Germany
Received March 4, 2013; Accepted March 29, 2013; Epub April 12, 2013; Published April 30, 2013
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. (IJCEM1303004).
Keywords: Estrogen receptor, ESR1, SNP, breast cancer
Address correspondence to: Dr. Ulrich Mahlknecht, Department of Internal Medicine, Hematology and Oncology, St. Lukas Klinik
Solingen, Schwanenstr. 132, D-42697 Solingen, Germany. Phone: +492127052151; Fax: +492127052152; E-mail: mahlknecht@gmx.
de
Original Article
ESR1 single nucleotide polymorphisms predict breast cancer suscep-tibility in the
central European Caucasian population
Mark F Lipphardt, Mustafa Deryal, Mei Fang Ong, Werner Schmidt, Ulrich Mahlknecht
Department of Internal Medicine, Division of Immunotherapy and Gene Therapy, José Carreras Research Center, Saarland University
Medical Center, D-66421 Homburg/Saar, Germany; Saarland University Medical Center, Department of Obstetrics and Gynecology,
Homburg/Saar, Germany; Institute of Medical Biometrics, Epidemiology and Medical Informatics, Saarland University, D-66421
Homburg/Saar, Germany
Received March 4, 2013; Accepted March 29, 2013; Epub April 12, 2013; Published April 30, 2013
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. (IJCEM1303004).
Keywords: Estrogen receptor, ESR1, SNP, breast cancer
Address correspondence to: Dr. Ulrich Mahlknecht, Department of Internal Medicine, Hematology and Oncology, St. Lukas Klinik
Solingen, Schwanenstr. 132, D-42697 Solingen, Germany. Phone: +492127052151; Fax: +492127052152; E-mail: mahlknecht@gmx.
de
