Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.Y537N
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ESR1

NM_000125.4:p.Y537N

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

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

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

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

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

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

Bidard FC et al.

The New England Journal of Medicine, 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

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

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

ESR1 Y537S and D538G Mutations Drive Resistance to CDK4/6 Inhibitors in Estrogen Receptor-Positive Breast Cancer.

Lin CA et al.

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

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

PTMD 2.0: an updated database of disease-associated post-translational modifications.

Huang X et al.

Nucleic Acids Research, 2025

39329270 (PubMed )
Supplement: gkae850_supplemental_files.zip › Table_S2.xlsx › Table_S2

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

Vaccines targeting ESR1 activating mutations elicit anti-tumor immune responses and suppress estrogen signaling in therapy resistant ER+ breast cancer.

Dailey GP et al.

Human Vaccines & Immunotherapeutics, 2024

Current Therapeutic Opportunities for Estrogen Receptor Mutant Breast Cancer.

Palaniappan M

Biomedicines, 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

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.

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM2_ESM.xlsx › Table_S2

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

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf
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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."