Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

Yang, Wei; He, Xue; He, Chunjuan; Peng, Linna; Xing, Shishi; Li, Dandan; Wang, Li; Jin, Tianbo; Yuan, Dongya

doi:10.1016/j.clbc.2020.10.003

Cited by 9 publications

(4 citation statements)

References 26 publications

(23 reference statements)

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“…However, rs2234693 showed signi cant association (P < 0.05) with family history, stage, PR status, ER status and luminal B subtype (Table 3). Similar results were obtained by other studies conducted on Mexican [18] Chinese [19] Japanese and Japanese-Brazilians population [20], which revealed that rs2234693 did not showed signi cant association with breast cancer susceptibility. In contrast, a study conducted on Iranian population had shown signi cant association of rs2234693 with high risk of breast cancer [21].…”

Section: Discussionsupporting

confidence: 90%

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

et al. 2023

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Background:Breast cancer susceptibility is greatly in uenced by single nucleotide polymorphisms (SNPs) both in penetrance and nonpenetrance genes. The Estrogen Receptor Alfa (ESR1-rs2234693 and rs2046210) have been reported as risk factor of breast cancer in different ethnic groups with inconsistent results. In this study the association of ESR1 (rs2234693 and rs2046210) with breast cancer risk was investigated in Khyber Pakhtunkhwa patients. Methods:A total of 222 women including 162 breast cancer patients and 60 healthy controls were enrolled in this study. The polymorphism was con rmed using T-ARMS-PCR. Results:Our results revealed that ESR1-rs2234693 risk allele (C) (P = 0.2, OR = 1.34, CI = 0.7 to 2.3) and containing genotypes CC (P = 0.61, OR = 1.50, CI = 0.31 to 7.30) and TC (P = 0.7, OR = 1.11, CI = 0.59 to 2.09) were not associated with the risk of breast cancer. In case of rs2046210, the risk allele A (P = 0.0006, OR = 7.50, CI = 0.77 to 2.33) and corresponding genotypes GA (P = 0.003, OR = 2.44, CI = 1.33 to 4.47) and AA (P = 0.3, OR = 3.15, CI = 1.06 to 9.38) were signi cantly associated with higher risk of breast cancer. Moreover, ESR1-rs2234693 was signi cantly (P < 0.05) associated with family history, stages, PR status, ER status and luminal B. The ESR1-rs2046210 showed signi cant (P ≤ 0.05) association with menstrual status, tumor grade and TNBC. Both the SNPs showed non-signi cant (P > 0.05) association with nulliparity, nodal status, HER2 status, metastasis, HER2 enriched subtype and luminal A. Conclusion:It is concluded that ESR1-rs2234693 is not associated with breast cancer, while rs2046210 is signi cantly associated with the risk of breast cancer in Khyber Pakhtunkhwa population. Further, to con rm the exact situation of ESR1 polymorphism, ESR1 existing and other SNPs need to be checked in diverse data sets.

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Section: Discussionsupporting

confidence: 90%

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

et al. 2023

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“…And PLK1-coactivated genes include classical ER target genes such as Ps2, Wisp2, and Serpina3 and are enriched in developmental and tumor-suppressive functions ( Wierer et al, 2013 ). ESR1 encodes estrogen receptor-α, which is a major biomarker in the development of breast cancer ( Yang et al, 2021 ). E2F1 expression is regulated by the estrogen receptor α (ERα) to mediate tamoxifen resistance in ERα-positive breast cancer cells ( Montenegro and Cancer, 2014 ).…”

Section: Resultsmentioning

confidence: 99%

Analysis of Breast Cancer Based on the Dysregulated Network

Huo

et al. 2022

Front. Genet.

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Breast cancer is a heterogeneous disease, and its development is closely associated with the underlying molecular regulatory network. In this paper, we propose a new way to measure the regulation strength between genes based on their expression values, and construct the dysregulated networks (DNs) for the four subtypes of breast cancer. Our results show that the key dysregulated networks (KDNs) are significantly enriched in critical breast cancer-related pathways and driver genes; closely related to drug targets; and have significant differences in survival analysis. Moreover, the key dysregulated genes could serve as potential driver genes, drug targets, and prognostic markers for each breast cancer subtype. Therefore, the KDN is expected to be an effective and novel way to understand the mechanisms of breast cancer.

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“…rs2234693 allele frequency was observed with 5.14-fold increased BC risk. Previous studies have shown an increased risk of BC in European and African American women related to the rs1801132 (8); however, there is some contradictory evidence in other studies, which may be due to differences in sample size and genetic diversity. The results of a study by Li and Xu (9) showed that the rs2234693 C>T SNP is a risk factor for BC in pre-menopausal women.…”

Section: Introductionmentioning

confidence: 84%

An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021

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Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

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Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

Cited by 9 publications

References 26 publications

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa

Analysis of Breast Cancer Based on the Dysregulated Network

An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

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