Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.L536P
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ESR1

NM_000125.4:p.L536P

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

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 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

39392509 (PubMed )
Supplement: 428_2024_3942_MOESM1_ESM.xlsx › Tabelle1

Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.

Mastrantoni L 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

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

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

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

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.

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

Molecular alterations and prognosis of breast cancer with cutaneous metastasis.

Xu Y et al.

Diagnostic Pathology, 2024

Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.

Gómez Tejeda Zañudo J et al.

Nature Communications, 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

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

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

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Genomic Alterations Associated with Estrogen Receptor Pathway Activity in Metastatic Breast Cancer Have a Differential Impact on Downstream ER Signaling.

Angus L et al.

Cancers, 2023

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

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

Estrogen receptor alpha mutations regulate gene expression and cell growth in breast cancer through microRNAs.

Arnesen S et al.

Nar Cancer, 2023

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

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

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

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR.

Ahn SG et al.

Npj Breast Cancer, 2022

Hotspot ESR1 Mutations Are Multimodal and Contextual Modulators of Breast Cancer Metastasis.

Li Z et al.

Cancer Research, 2022

Estrogen Receptor Alpha and ESR1 Mutations in Breast Cancer.

Patel JM et al.

Advances in Experimental Medicine and Biology, 2022

Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer.

Gou X et al.

Cancer Research, 2021

ESR1 mutation as an emerging clinical biomarker in metastatic hormone receptor-positive breast cancer.

Brett JO et al.

Breast Cancer Research : Bcr, 2021

Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites.

Cha S et al.

Npj Breast Cancer, 2021

34272397 (PubMed )
Supplement: 41523_2021_303_MOESM2_ESM.pdf

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM4_ESM.xlsx › maf.oncokb_access
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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."