ArticleBreast cancer research and treatment2021
Evaluation of endocrine resistance using ESR1 genotyping of circulating tumor cells and plasma DNA.
Article in Breast cancer research and treatment, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 16 citations in OpenAlex.
- The role of serologic biomarkers "liquid biopsy" in the fight against breast cancer: From biological foundations to clinical impact.iScience · 2026Review
- ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma-cfDNA of advanced breast cancer patients: A feasibility proof-of-concept study.Molecular oncology · 2026Article
- Review
- Recent Advances (2020-2025) in Estrogen and ER-Positive Breast Cancer: Receptor Signaling, Tumor Microenvironment, Endocrine Therapy Resistance and Innovative Treatment Strategies-A Comprehensive Review.Cancer management and research · 2026Review
- Emerging Targeted and Multimodal Therapeutic Strategies in Breast Cancer: A Comprehensive Review.Breast cancer (Dove Medical Press) · 2026Review
- ESR1 analysis of liquid biopsy in breast cancer, one-year routine experience of an Italian clinical referral center.The journal of liquid biopsy · 2025Article
- Single-cell RNA-sequencing of circulating tumour cells: A practical guide to workflow and translational applications.Cancer metastasis reviews · 2025Review
- Rotenoids from the Roots of Vicia faba L. (Fabaceae): Structural Characterization, Cytotoxic Effects, and Molecular Docking.Chemistry & biodiversity · 2025Article
- Circulating tumor cells: Blood-based detection, molecular biology, and clinical applications.Cancer cell · 2025Review
- 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.Molecular oncology · 2025Article
- Vaccines targetingHuman vaccines & immunotherapeutics · 2024Article
- Androgen receptor and estrogen receptor variants in prostate and breast cancers.The Journal of steroid biochemistry and molecular biology · 2024Review
- Longitudinal analysis of circulating tumor cell numbers improves tracking metastatic breast cancer progression.Scientific reports · 2024Article
- Utilization of Circulating Tumor Cells in the Management of Solid Tumors.Journal of personalized medicine · 2023Review
- Detection and Molecular Characterization of Circulating Tumour Cells: Challenges for the Clinical Setting.Cancers · 2023Review
- Article
- The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients.Diagnostics (Basel, Switzerland) · 2022Review
- Circulating Tumor Cells as a Tool to Untangle the Breast Cancer Heterogeneity Issue.Biomedicines · 2021Review
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 3 countries.
Funding
Abstract
purposeTherapeutic efficacy of hormonal therapies to target estrogen receptor (ER)-positive breast cancer is limited by the acquisition of ligand-independent ESR1 mutations, which confer treatment resistance to aromatase inhibitors (AIs). Monitoring for the emergence of such mutations may enable individualized therapy. We thus assessed CTC- and ctDNA-based detection of ESR1 mutations with the aim of evaluating non-invasive approaches for the determination of endocrine resistance. PATIENTS AND
methodsIn a prospective cohort of 55 women with hormone receptor-positive metastatic breast cancer, we isolated circulating tumor cells (CTCs) and developed a high-sensitivity method for the detection of ESR1 mutations in these CTCs. In patients with sufficient plasma for the simultaneous extraction of circulating tumor DNA (ctDNA), we performed a parallel analysis of ESR1 mutations using multiplex droplet digital PCR (ddPCR) and examined the agreement between these two platforms. Finally, we isolated single CTCs from a subset of these patients and reviewed RNA expression to explore alternate methods of evaluating endocrine responsiveness.
resultsHigh-sensitivity ESR1 sequencing from CTCs revealed mono- and oligoclonal mutations in 22% of patients. These were concordant with plasma DNA sequencing in 95% of cases. Emergence of ESR1 mutations was correlated both with time to metastatic relapse and duration of AI therapy following such recurrence. The Presence of an ESR1 mutation, compared to ESR1 wild type, was associated with markedly shorter Progression-Free Survival on AI-based therapies (p = 0.0006), but unaltered to other non-AI-based therapies (p = 0.73). Compared with ESR1 mutant cases, AI-resistant CTCs with wild-type ESR1 showed an elevated ER-coactivator RNA signature, consistent with their predicted response to second-line hormonal therapies.
conclusionBlood-based serial monitoring may guide the selection of precision therapeutics for women with AI-resistant ER-positive breast cancer.
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