Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.Y537S
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ESR1

NM_000125.4:p.Y537S

Associated Papers

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

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

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

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

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

41335237 (PubMed )
Supplement: ccr-25-0571_supplementary_data1_suppds1.docx

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

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

Uterine leiomyosarcoma progression: A study of serial recurrences.

Sia TY et al.

Gynecologic Oncology, 2025

Early phase development of PI3kinase inhibitors for anticancer therapies.

Caputo C et al.

Expert Opinion on Investigational Drugs, 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

Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Pons L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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

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

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

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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."