Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.E380Q
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ESR1

NM_000125.4:p.E380Q

Associated Papers

Genomic landscape of metastatic breast cancers in young adults: a liquid biopsy analysis of women aged 20-40 years.

Diab E et al.

Breast (edinburgh, Scotland), 2026

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

ESR1 mutation in Endocrine treatment naive Endometrial Cancer: Prevalence, Characteristics and Prognostic Implications, results from the UTOLA phase II GINECO trial.

Blanc-Durand F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Clinical and Genomic Factors Associated with Elacestrant Outcomes in ESR1-Mutant Metastatic Breast Cancer.

Lloyd MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

The natural L370F ERα variant confers endocrine resistance and sensitivity to ATRA in metastatic breast cancer cells.

Cipolletti M et al.

Cell Communication and Signaling : Ccs, 2026

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_5

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

Allsopp RC et al.

Bmc Cancer, 2025

A phase Ib study of sapacitabine and olaparib in patients with BRCA1/2-mutated metastatic breast cancer.

Lynce F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

ESR1 analysis of liquid biopsy in breast cancer, one-year routine experience of an Italian clinical referral center.

Maloberti T et al.

The Journal of Liquid Biopsy, 2025

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

Kinetics and determinants of ESR1 mutation detection in metastatic breast cancer.

Cabel L et al.

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

RPS24 microexon isoform as a novel biomarker for estrogen receptor-positive breast cancer progression and therapeutic resistance.

Park J et al.

Experimental & Molecular Medicine, 2025

Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.

Sandbothe M et al.

Virchows Archiv : an International Journal of Pathology, 2025

Screening and identification of HLA-A2-restricted neoepitopes for immunotherapy in endocrine therapy-resistant breast cancer.

Wang M et al.

Neoplasia (new York, N.y.), 2025

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

Genomic characterization of tumor mutational burden-high breast carcinomas.

Vougiouklakis T et al.

Npj Precision Oncology, 2025

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.

Klocker EV et al.

Npj Breast Cancer, 2025

40775238 (PubMed )
Supplement: 41523_2025_805_MOESM1_ESM.pdf

Circulating tumor DNA mutational landscape and dynamics after progression on a CDK4/6 inhibitor in the PACE phase II trial for metastatic HR-positive/HER2-negative breast cancer.

Jeselsohn R et al.

Esmo Open, 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 rate for ESR1 mutations is higher in circulating-tumor-cell-derived genomic DNA than in paired plasma cell-free DNA samples as revealed by ddPCR.

Smilkou S et al.

Molecular Oncology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.

Chan HT et al.

Clinical Chemistry, 2025

40320741 (PubMed )
Supplement: hvaf045_supplementary_data.zip › Supplementary_tables_revision4.pdf

Prospective study of the real impact of fusion centered genomic assays in patient management in a national collaborative group: the GETHI-XX-16 study.

Navarro P et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Clinical Application of Next-Generation Sequencing for Molecular Classification in the Management of Endometrial Cancer: An Observational Cohort Study.

Paratore S et al.

Cancers, 2025

ESR1 testing on FFPE samples from metastatic lesions in HR + /HER2- breast cancer after progression on CDK4/6 inhibitor therapy.

Venetis K 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

Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA Workshop.

de Jager VD et al.

Ebiomedicine, 2025

40121940 (PubMed )
Supplement: mmc4.docx

Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention, and clinical impact.

Huebner H et al.

Precision Clinical Medicine, 2025

Exploring the role of ESR1 mutations in metastatic hormone receptor-positive breast cancer T cell immune surveillance disruption.

Lopez M et al.

Breast Cancer Research : Bcr, 2025

Safety and pharmacokinetics of vepdegestrant in Japanese patients with ER+ advanced breast cancer: a phase 1 study.

Iwata H et al.

International Journal of Clinical Oncology, 2025

Serial analysis of ESR1 mutations in cell-free DNA from hormone receptor-positive, HER2-negative metastatic breast cancer during palliative endocrine therapy.

Baek SY et al.

Frontiers in Oncology, 2025

Molecular Profiling of Endocrine Resistance in HR+/HER2-Metastatic Breast Cancer: Insights from Extracellular Vesicles-Derived DNA and ctDNA in Liquid Biopsies.

Martínez-Rodríguez A et al.

International Journal of Molecular Sciences, 2024

Development and validation of a multi-marker liquid bead array assay for the simultaneous detection of PIK3CA and ESR1 hotspot mutations in single circulating tumor cells (CTCs).

Stergiopoulou D et al.

Heliyon, 2024

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

39366967 (PubMed )
Supplement: 41523_2024_693_MOESM2_ESM.xlsx › Supplementary_Data_2

The clinical impact of plasma estrogen receptor-1 mutation in patients with metastatic breast cancer: A meta-analysis.

Zhang X et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

Genomic and clinical landscape of metastatic hormone receptors-positive breast cancers carrying ESR1 alterations.

Boscolo Bielo L et al.

Esmo Open, 2024

A Novel AKT1, ERBB2, ESR1, KRAS, PIK3CA, and TP53 NGS Assay: A Non-Invasive Tool to Monitor Resistance Mechanisms to Hormonal Therapy and CDK4/6 Inhibitors.

Virga A et al.

Biomedicines, 2024

39457497 (PubMed )
Supplement: biomedicines-12-02183-s001.zip › Supplementary_Table_S1_revised_20240924.xlsx › Foglio1

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.

Oral Estrogen Receptor PROTAC Vepdegestrant (ARV-471) Is Highly Efficacious as Monotherapy and in Combination with CDK4/6 or PI3K/mTOR Pathway Inhibitors in Preclinical ER+ Breast Cancer Models.

Gough SM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

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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."