Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.Y537D
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ESR1

NM_000125.4:p.Y537D

Associated Papers

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

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

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

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

37883178 (PubMed )
Supplement: jci-134-163242-s231.xlsx › TableS5

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

Lee H et al.

Cancer Research and Treatment, 2024

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

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

ESR1 activating mutations: From structure to clinical application.

Grinshpun A et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2023

Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Sivakumar S et al.

Nature Communications, 2022

36470901 (PubMed )
Supplement: 41467_2022_35245_MOESM4_ESM.xlsx › Supplementary_Data_17

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

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

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer.

Dahlgren M et al.

Jnci Cancer Spectrum, 2021

33937624 (PubMed )
Supplement: pkab028_supplementary_data.pdf

Steroid Hormone Receptor and Infiltrating Immune Cell Status Reveals Therapeutic Vulnerabilities of ESR1-Mutant Breast Cancer.

Williams MM et al.

Cancer Research, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes.

Pleasance E et al.

Nature Cancer, 2020

35121966 (PubMed )
Supplement: 43018_2020_50_MOESM3_ESM.xlsx › Supplementary_Table_5

Quantitative Evaluation of the Transcriptional Activity of Steroid Hormone Receptor Mutants and Variants Using a Single Vector With Two Reporters and a Receptor Expression Cassette.

Ji H et al.

Frontiers in Endocrinology, 2020

Structural underpinnings of oestrogen receptor mutations in endocrine therapy resistance.

Katzenellenbogen JA et al.

Nature Reviews. Cancer, 2018

Implications of ESR1 Mutations in Hormone Receptor-Positive Breast Cancer.

Reinert T et al.

Current Treatment Options in Oncology, 2018

Highly sensitive detection of ESR1 mutations in cell-free DNA from patients with metastatic breast cancer using molecular barcode sequencing.

Masunaga N et al.

Breast Cancer Research and Treatment, 2018

Activating ESR1 Mutations Differentially Affect the Efficacy of ER Antagonists.

Toy W et al.

Cancer Discovery, 2017

Formation of a powerful capping motif corresponding to start of "helix 12" in agonist-bound estrogen receptor-alpha contributes to increased constitutive activity of the protein.

Skafar DF

Cell Biochemistry and Biophysics, 2000

Function of estrogen receptor tyrosine 537 in hormone binding, DNA binding, and transactivation.

Yudt MR et al.

Biochemistry, 1999

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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."