ArticleFrontiers in oncology2021
ESR1 Gene Mutation in Hormone Receptor-Positive HER2-Negative Metastatic Breast Cancer Patients: Concordance Between Tumor Tissue and Circulating Tumor DNA Analysis.
Article in Frontiers in oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 15 citations in OpenAlex.
- Bridging Biomarker Testing to Biomarker-Driven Targeted Therapy: Real-World ESR1 Mutation Testing Patterns and Prevalence in ER+, HER2- Metastatic Breast Cancer.Molecular diagnosis & therapy · 2026Article
- The role of serologic biomarkers "liquid biopsy" in the fight against breast cancer: From biological foundations to clinical impact.iScience · 2026Review
- Concordance analysis of non-invasive techniques for PIK3CA and ESR1 mutations in advanced HR+/HER2- breast cancer: the CANIPE study.NPJ precision oncology · 2026Article
- Article
- Article
- MMTV-like Viruses and Human Breast Cancer: Evidence for Causality.Current issues in molecular biology · 2026Review
- Review
- Minimal Residual Disease in Breast Cancer: Tumour Microenvironment Interactions, Detection Methods and Therapeutic Approaches.International journal of molecular sciences · 2025Review
- Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention, and clinical impact.Precision clinical medicine · 2025Article
- Estrogen-Receptor Loss andCancers · 2024Article
- Liquid Biopsy in the Clinical Management of Cancers.International journal of molecular sciences · 2024Review
- Genomic Landscape of Circulating Tumor DNA in Patients With Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor-2-Negative Metastatic Breast Cancer Treated With Abemaciclib: Data From the SCRUM-Japan Cancer Genome Screening Project.JCO precision oncology · 2024Article
- Inferring cancer common and specific gene networks via multi-layer joint graphical model.Computational and structural biotechnology journal · 2023Article
- The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients.Diagnostics (Basel, Switzerland) · 2022Review
- Liquid Biopsy as a Tool for the Diagnosis, Treatment, and Monitoring of Breast Cancer.International journal of molecular sciences · 2022Review
- Targeting Cell Cycle Progression in HER2+ Breast Cancer: An Emerging Treatment Opportunity.International journal of molecular sciences · 2022Review
- Review
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endocrine therapy represents the cornerstone of treatment in hormone receptor-positive (HR+), HER2-negative metastatic breast cancer (mBC). The natural course of this disease is marked by endocrine resistance, mainly due to Estrogen Receptor 1 (ESR1) acquired mutations. The aim of this study is to evaluate the concordance between ESR1 status in metastatic tumor specimens and matched circulating tumor DNA (ctDNA). Forty-three patients with HR+, HER2-negative mBC underwent both a metastatic tumor biopsy and a liquid biopsy at the time of disease progression. DNA extracted from formalin fixed paraffin embedded (FFPE) tumor specimens and ctDNA from matched plasma were analyzed by droplet digital (dd)PCR for the main ESR1 mutations (Y537S, Y537C, Y537N, D538G, E380Q). We observed a total mutation rate of 21%. We found six mutations on tissue biopsy: Y537S (1), D538G (2), Y537N (1), E380Q (2). Three patients with no mutations in tumor tissue had mutations detected in ctDNA. The total concordance rate between ESR1 status on tumor tissue and plasma was 91%. Our results confirm the potential role of liquid biopsy as a non-invasive alternative to tissue biopsy for ESR1 mutation assessment in mBC patients.
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