Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.L536H
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ESR1

NM_000125.4:p.L536H

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

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

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

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

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

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 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

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

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.

Estrogen-Receptor Loss and ESR1 Mutation in Estrogen-Receptor-Positive Metastatic Breast Cancer and the Effect on Overall Survival.

Westenend PJ et al.

Cancers, 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

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

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

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

Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine.

Lee H et al.

Cancer Research and Treatment, 2024

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

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM2_ESM.xlsx › Feuil1

ESR1 Gene Mutations and Liquid Biopsy in ER-Positive Breast Cancers: A Small Step Forward, a Giant Leap for Personalization of Endocrine Therapy?

Betz M et al.

Cancers, 2023

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Potential value of ctDNA monitoring in metastatic HR + /HER2 - breast cancer: longitudinal ctDNA analysis in the phase Ib MONALEESASIA trial.

Chiu J et al.

Bmc Medicine, 2023

Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.

Yoon JK et al.

Cancer Research and Treatment, 2023

Genomics of Breast Cancer Brain Metastases: A Meta-Analysis and Therapeutic Implications.

Nguyen TT et al.

Cancers, 2023

Efficacy and exploratory biomarker analysis of entinostat plus exemestane in advanced or recurrent breast cancer: phase II randomized controlled trial.

Iwata H et al.

Japanese Journal of Clinical Oncology, 2023

36398439 (PubMed )
Supplement: supplementary_methods_hyac166.pdf

ESR1 activating mutations: From structure to clinical application.

Grinshpun A et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2023

Validation of liquid biopsy for ESR1-mutation analysis in hormone-sensitive breast cancer: a pooled meta-analysis.

Najim O et al.

Frontiers in Oncology, 2023

Molecular characterization of ESR1 variants in breast cancer.

Heeke AL et al.

Breast Cancer Research and Treatment, 2022

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM8_ESM.xlsx › Foglio1

Detection of ESR1 Mutations in Primary Tumors and Plasma Cell-Free DNA in High-Grade Serous Ovarian Carcinoma Patients.

Stergiopoulou D et al.

Cancers, 2022

Predictors of fulvestrant long-term benefit in hormone receptor-positive/HER2 negative advanced breast cancer.

Torrisi R et al.

Scientific Reports, 2022

AMEERA-1 phase 1/2 study of amcenestrant, SAR439859, in postmenopausal women with ER-positive/HER2-negative advanced breast cancer.

Bardia A et al.

Nature Communications, 2022

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors.

Froyen G et al.

Cancers, 2022

35626061 (PubMed )
Supplement: cancers-14-02457-s001.zip › cancers-1701391-supplementary.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."