Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.V534E
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ESR1

NM_000125.4:p.V534E

Associated Papers

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

ESR1 ctDNA testing: literature review and comparison of assays for ESR1 mutation detection in advanced hormone receptor-positive breast cancer.

Yarunin A et al.

Expert Review of Molecular Diagnostics, 2025

Evolutionary Overview and Future Perspectives: ESR1 Mutations, Liquid Biopsy, and Artificial Intelligence for a New Era of Personalized Medicine in ER+ Breast Cancer.

Martella S et al.

Molecular Diagnosis & Therapy, 2025

Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients.

Borkar S et al.

Cancers, 2025

Somatic estrogen receptor α mutations that induce dimerization promote receptor activity and breast cancer proliferation.

Irani S et al.

The Journal of Clinical Investigation, 2024

37883178 (PubMed )
Supplement: jci-134-163242-s231.xlsx › TableS5

Open-label, phase II, multicenter study of lasofoxifene plus abemaciclib for treating women with metastatic ER+/HER2- breast cancer and an ESR1 mutation after disease progression on prior therapies: ELAINE 2.

Damodaran S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2023

Lasofoxifene versus fulvestrant for ER+/HER2- metastatic breast cancer with an ESR1 mutation: results from the randomized, phase II ELAINE 1 trial.

Goetz MP et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2023

ESR1 Gene Mutations and Liquid Biopsy in ER-Positive Breast Cancers: A Small Step Forward, a Giant Leap for Personalization of Endocrine Therapy?

Betz M et al.

Cancers, 2023

ESR1 activating mutations: From structure to clinical application.

Grinshpun A et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2023

Estrogen Receptor Alpha and ESR1 Mutations in Breast Cancer.

Patel JM et al.

Advances in Experimental Medicine and Biology, 2022

Estrogen receptor-α signaling in post-natal mammary development and breast cancers.

Rusidzé M et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Fusion Genes in Breast Cancer.

Kim J et al.

Advances in Experimental Medicine and Biology, 2021

Utility of Serial cfDNA NGS for Prospective Genomic Analysis of Patients on a Phase I Basket Study.

Smyth LM et al.

Jco Precision Oncology, 2021

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Froyen G et al.

Cancers, 2019

ESR1 mutations in breast cancer.

Dustin D et al.

Cancer, 2019

Comparison of BEAMing and Droplet Digital PCR for Circulating Tumor DNA Analysis.

O'Leary B et al.

Clinical Chemistry, 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

The Impact of ESR1 Mutations on the Treatment of Metastatic Breast Cancer.

Pejerrey SM et al.

Hormones & Cancer, 2018

Implications of ESR1 Mutations in Hormone Receptor-Positive Breast Cancer.

Reinert T et al.

Current Treatment Options in Oncology, 2018

Are We Ready to Use ESR1 Mutations in Clinical Practice?

Jeselsohn R

Breast Care (basel, Switzerland), 2017

The Evolving Role of the Estrogen Receptor Mutations in Endocrine Therapy-Resistant Breast Cancer.

Jeselsohn R et al.

Current Oncology Reports, 2017

Activating ESR1 Mutations Differentially Affect the Efficacy of ER Antagonists.

Toy W et al.

Cancer Discovery, 2017

Detection and Characterization of Circulating Tumor Associated Cells in Metastatic Breast Cancer.

Mu Z et al.

International Journal of Molecular Sciences, 2016

Are Estrogen Receptor Genomic Aberrations Predictive of Hormone Therapy Response in Breast Cancer?

Tabarestani S et al.

Iranian Journal of Cancer Prevention, 2016

Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant.

Spoerke JM et al.

Nature Communications, 2016

ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer.

Jeselsohn R et al.

Nature Reviews. Clinical Oncology, 2015

Estrogen receptor mutations and their role in breast cancer progression.

Alluri PG et al.

Breast Cancer Research : Bcr, 2014

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."