Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.P535H
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ESR1

NM_000125.4:p.P535H

Associated Papers

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

Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterations.

Chaki M et al.

Breast Cancer Research : Bcr, 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

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.

Estrogen Receptor Mutations as Novel Targets for Immunotherapy in Metastatic Estrogen Receptor-positive Breast Cancer.

Goldberg J et al.

Cancer Research Communications, 2024

38335301 (PubMed )
Supplement: crc-23-0244-s02.pdf

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

Efficacy and exploratory biomarker analysis of entinostat plus exemestane in advanced or recurrent breast cancer: phase II randomized controlled trial.

Iwata H et al.

Japanese Journal of Clinical Oncology, 2023

36398439 (PubMed )
Supplement: supplementary_methods_hyac166.pdf

Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis.

Najim O et al.

Frontiers in Oncology, 2023

Predictors of fulvestrant long-term benefit in hormone receptor-positive/HER2 negative advanced breast cancer.

Torrisi R et al.

Scientific Reports, 2022

Hotspot ESR1 Mutations Are Multimodal and Contextual Modulators of Breast Cancer Metastasis.

Li Z et al.

Cancer Research, 2022

Estrogen Receptor Alpha and ESR1 Mutations in Breast Cancer.

Patel JM et al.

Advances in Experimental Medicine and Biology, 2022

Fusion Genes in Breast Cancer.

Kim J et al.

Advances in Experimental Medicine and Biology, 2021

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS5.xlsx › Cancer_Biomarkers

Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes.

Pleasance E et al.

Nature Cancer, 2020

35121966 (PubMed )
Supplement: 43018_2020_50_MOESM3_ESM.xlsx › Supplementary_Table_5

Quantitative Evaluation of the Transcriptional Activity of Steroid Hormone Receptor Mutants and Variants Using a Single Vector With Two Reporters and a Receptor Expression Cassette.

Ji H et al.

Frontiers in Endocrinology, 2020

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

Constitutively active ESR1 mutations in gynecologic malignancies and clinical response to estrogen-receptor directed therapies.

Gaillard SL et al.

Gynecologic Oncology, 2019

Dynamics Insights Into the Gain of Flexibility by Helix-12 in ESR1 as a Mechanism of Resistance to Drugs in Breast Cancer Cell Lines.

Khan A et al.

Frontiers in Molecular Biosciences, 2019

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

Pejerrey SM et al.

Hormones & Cancer, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

Clinical value of circulating ESR1 mutations for patients with metastatic breast cancer: a meta-analysis.

Zhang K et al.

Cancer Management and Research, 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

ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients.

Angus L et al.

Cancer Treatment Reviews, 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."