Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.D538G
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ESR1

NM_000125.4:p.D538G

Associated Papers

Genomic and clinicopathological characteristics of low oncotype recurrent score breast cancers with subsequent metastasis.

Liu L et al.

Histopathology, 2026

The role of the SLC25A15 transporter in the formation of liver metastasis in ESR1-mutated breast cancer.

Taya M et al.

Oncogene, 2026

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

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Defective DNA Damage Response is a Targetable Therapeutic Vulnerability in ESR1 Mutant Breast Cancer.

Herzog SK et al.

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

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

Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.

Corné J et al.

The Journal of Molecular Diagnostics : Jmd, 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

A ternary switch model governing ERα ligand binding domain conformation.

McDougal DP et al.

Nature Communications, 2025

Determinants of long-term response to patritumab deruxtecan in breast cancer patient-derived xenografts.

Òdena A et al.

Npj Precision Oncology, 2025

41272064 (PubMed )
Supplement: 41698_2025_1172_MOESM1_ESM.pdf

Incidence of ESR1 gene mutations among patients with endometrioid endometrial cancer.

Jang M et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 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

Discovery of a novel small molecule degrader of wild type and mutant estrogen receptors using DNA encoded libraries.

Devakrishnan AK et al.

Npj Breast Cancer, 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

AI-Driven Variant Annotation for Precision Oncology in Breast Cancer.

Shukla K et al.

Clinical and Translational Science, 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

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM1_ESM.xlsx › stable6

Harmonization trial on ESR1 testing strategies in ER+/HER2- breast cancer patients: an Italian experience.

Pepe F et al.

The Journal of Liquid Biopsy, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

First-Line Camizestrant for Emerging ESR1-Mutated Advanced Breast Cancer.

Bidard FC et al.

The New England Journal of Medicine, 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

Genomic and proteomic profiling of GATA3 mutant metastatic hormone receptor-positive breast cancer and impact on clinical outcomes.

Medford AJ et al.

Breast Cancer Research and Treatment, 2025

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

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: DS_PO-25-00265.pdf

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

Clinical applications of next-generation sequencing-based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression.

Klocker EV et al.

Molecular Oncology, 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

Purification and biochemical characterization of mutant ligand binding domain of human estrogen receptor α protein.

Palaniappan M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 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_1.xlsx › Comparison_FFPE
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