Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.Y537C
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ESR1

NM_000125.4:p.Y537C

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

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

41201834 (PubMed )
Supplement: ccr-25-3033_supplementary_appendix_1_suppsa1.pdf

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

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

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

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

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

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

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

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

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

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

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

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

40282442 (PubMed )
Supplement: cancers-17-01266-s001.zip › cancers-3540268-supplementary.pdf

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

PARP7 Inhibitors and AHR Agonists Act Synergistically across a Wide Range of Cancer Models.

Chen H et al.

Molecular Cancer Therapeutics, 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

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

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

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

Boscolo Bielo L et al.

Esmo Open, 2024

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.

USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERα.

Zhuang T et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

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

A phase I dose escalation and expansion trial of the next-generation oral SERD camizestrant in women with ER-positive, HER2-negative advanced breast cancer: SERENA-1 monotherapy results.

Hamilton E et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

EstroGene2.0: A multi-omic database of response to estrogens, ER-modulators, and resistance to endocrine therapies in breast cancer.

Li Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39005294 (PubMed )
Supplement: media-2.xlsx › ESR1_Mutation

Enhanced eMAGE applied to identify genetic factors of nuclear hormone receptor dysfunction via combinatorial gene editing.

Ciaccia PN et al.

Nature Communications, 2024

Liver tropism of ER mutant breast cancer is characterized by unique molecular changes and immune infiltration.

Wu Y et al.

Breast Cancer Research and Treatment, 2024

Liquid Biopsy Profiling with Multiple Tests in Patients with Metastatic Breast Cancer.

Higa N et al.

Journal of Molecular Pathology, 2024

Identifying prognostic biomarkers for palbociclib add-on therapy in fulvestrant-resistant breast cancer using cell-free DNA sequencing.

Takeshita T et al.

Esmo Open, 2024

38387111 (PubMed )
Supplement: mmc2.xlsx › Baseline

Genomic Landscape of Circulating Tumor DNA in Patients With Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor-2-Negative Metastatic Breast Cancer Treated With Abemaciclib: Data From the SCRUM-Japan Cancer Genome Screening Project.

Hattori M et al.

Jco Precision Oncology, 2024

ESR1 F404 Mutations and Acquired Resistance to Fulvestrant in ESR1-Mutant Breast Cancer.

Kingston B et al.

Cancer Discovery, 2024

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

Concurrent Tissue and Circulating Tumor DNA Molecular Profiling to Detect Guideline-Based Targeted Mutations in a Multicancer Cohort.

Iams WT et al.

Jama Network Open, 2024

Exploring the Spatial Landscape of the Estrogen Receptor Proximal Proteome With Antibody-Based Proximity Labeling.

Rega C et al.

Molecular & Cellular Proteomics : Mcp, 2024

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

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

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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."