ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density

Asma Khorshid Shamshiri; Fahimeh Afzaljavan; Maryam Alidoust; Vahideh Taherian; Fatemeh Vakili; Atefeh Moezzi; Fatemeh Homaei Shandiz; Donya Farrokh; Alireza Pasdar

doi:10.1007/s11033-020-05823-7

ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density

Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Maryam Alidoust, Vahideh Taherian, Fatemeh Vakili, Atefeh Moezzi, Fatemeh Homaei Shandiz, Donya Farrokh, Alireza Pasdar

Applied Medicine

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.

Original language	English
Pages (from-to)	8367-8375
Number of pages	9
Journal	Molecular Biology Reports
Volume	47
Early online date	24 Oct 2020
DOIs	https://doi.org/10.1007/s11033-020-05823-7
Publication status	Published - Nov 2020

Bibliographical note

This work was based on the Master of Science thesis of Ms. Asma Khorshid Shamshiri and was financially supported by Mashhad University of Medical Sciences under Grant 981310.

Keywords

Breast neoplasm
Genetic variation
Breast density
Estrogen receptor
Association study
ESTROGEN-RECEPTOR-ALPHA
GENOME-WIDE ASSOCIATION
SUSCEPTIBILITY
POLYMORPHISMS

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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@article{9ec4c9e166f64a688f622296dbabadc5,

title = "ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density",

abstract = "Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.",

keywords = "Breast neoplasm, Genetic variation, Breast density, Estrogen receptor, Association study, ESTROGEN-RECEPTOR-ALPHA, GENOME-WIDE ASSOCIATION, SUSCEPTIBILITY, POLYMORPHISMS",

author = "Shamshiri, {Asma Khorshid} and Fahimeh Afzaljavan and Maryam Alidoust and Vahideh Taherian and Fatemeh Vakili and Atefeh Moezzi and Shandiz, {Fatemeh Homaei} and Donya Farrokh and Alireza Pasdar",

note = "This work was based on the Master of Science thesis of Ms. Asma Khorshid Shamshiri and was financially supported by Mashhad University of Medical Sciences under Grant 981310. ",

year = "2020",

month = nov,

doi = "10.1007/s11033-020-05823-7",

language = "English",

volume = "47",

pages = "8367--8375",

journal = "Molecular Biology Reports",

issn = "0301-4851",

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TY - JOUR

T1 - ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density

AU - Shamshiri, Asma Khorshid

AU - Afzaljavan, Fahimeh

AU - Alidoust, Maryam

AU - Taherian, Vahideh

AU - Vakili, Fatemeh

AU - Moezzi, Atefeh

AU - Shandiz, Fatemeh Homaei

AU - Farrokh, Donya

AU - Pasdar, Alireza

N1 - This work was based on the Master of Science thesis of Ms. Asma Khorshid Shamshiri and was financially supported by Mashhad University of Medical Sciences under Grant 981310.

PY - 2020/11

Y1 - 2020/11

N2 - Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.

AB - Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.

KW - Breast neoplasm

KW - Genetic variation

KW - Breast density

KW - Estrogen receptor

KW - Association study

KW - ESTROGEN-RECEPTOR-ALPHA

KW - GENOME-WIDE ASSOCIATION

KW - SUSCEPTIBILITY

KW - POLYMORPHISMS

UR - http://www.scopus.com/inward/record.url?scp=85093969380&partnerID=8YFLogxK

U2 - 10.1007/s11033-020-05823-7

DO - 10.1007/s11033-020-05823-7

M3 - Article

C2 - 33099762

SN - 0301-4851

VL - 47

SP - 8367

EP - 8375

JO - Molecular Biology Reports

JF - Molecular Biology Reports

ER -

ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density

Abstract

Bibliographical note

Keywords

UN SDGs

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