ArticleScientific reports2018
High-sensitivity assay for monitoring ESR1 mutations in circulating cell-free DNA of breast cancer patients receiving endocrine therapy.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic accuracy of ESR1 mutation detection by cell-free DNA in breast cancer: a systematic review and meta-analysis of diagnostic test accuracy.BMC cancer · 2024Pooled it
- Rb expression in metastatic ER-positive breast cancer: implications for precision oncology.Breast cancer research and treatment · 2026Article
- ESR1 analysis of liquid biopsy in breast cancer, one-year routine experience of an Italian clinical referral center.The journal of liquid biopsy · 2025Article
- Unraveling the Potential of ctDNA in Precision Medicine for Breast Cancer.Molecular diagnosis & therapy · 2025Review
- Circulating Tumor DNA-A Novel Biomarker of Tumor Progression and Its Favorable Detection Techniques.Cancers · 2022Review
- Targeted next generation sequencing of circulating tumor DNA provides prognostic information for management in breast cancer patients.Annals of translational medicine · 2022Article
- Review
- Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?Molecular diagnosis & therapy · 2021Review
- Olaparib in hormone receptor-positive, HER2-negative metastatic breast cancer with a somaticTherapeutic advances in medical oncology · 2021Article
- ESR1 Gene Mutation in Hormone Receptor-Positive HER2-Negative Metastatic Breast Cancer Patients: Concordance Between Tumor Tissue and Circulating Tumor DNA Analysis.Frontiers in oncology · 2021Article
- Currently Applied Molecular Assays for IdentifyingInternational journal of molecular sciences · 2020Review
- Review
- Detection ofFrontiers in oncology · 2020Review
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 70% of breast cancers (BCs) express estrogen receptor alpha (ERα) and are treated with endocrine therapy. However, the effectiveness of this therapy is limited by innate or acquired resistance in approximately one-third of patients. Activating mutations in the ESR1 gene that encodes ERα promote critical resistance mechanisms. Here, we developed a high sensitivity approach based on enhanced-ice-COLD-PCR for detecting ESR1 mutations. The method produced an enrichment up to 100-fold and allowed the unambiguous detection of ESR1 mutations even when they consisted of only 0.01% of the total ESR1 allelic fraction. After COLD-PCR enrichment, methods based on next-generation sequencing or droplet-digital PCR were employed to detect and quantify ESR1 mutations. We applied the method to detect ESR1 mutations in circulating free DNA from the plasma of 56 patients with metastatic ER-positive BC. Fifteen of these patients were found to have ESR1 mutations at codons 536-538. This study demonstrates the utility of the enhanced-ice-COLD-PCR approach for simplifying and improving the detection of ESR1 tumor mutations in liquid biopsies. Because of its high sensitivity, the approach may potentially be applicable to patients with non-metastatic disease.
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