ArticleClinical chemistry2017
Next Generation Sequencing of Circulating Cell-Free DNA for Evaluating Mutations and Gene Amplification in Metastatic Breast Cancer.
Article in Clinical chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 5 syntheses or guidelines pooled it, 118 citations in OpenAlex.
- Circulating tumour DNA and its clinical relevance in predicting progression-free survival and overall survival in patients with advanced breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2026Pooled it
- Circulating Tumor DNA and Survival in Metastatic Breast Cancer: A Systematic Review and Meta-Analysis.JAMA network open · 2024Pooled it
- Pooled it
- Accuracy of analysis of cfDNA for detection of single nucleotide variants and copy number variants in breast cancer.BMC cancer · 2019Pooled it
- Liquid biopsy prediction of axillary lymph node metastasis, cancer recurrence, and patient survival in breast cancer: A meta-analysis.Medicine · 2018Pooled it
- Ado-trastuzumab emtansine (T-DM1) in patients with HER2-amplified tumors excluding breast and gastric/gastroesophageal junction (GEJ) adenocarcinomas: results from the NCI-MATCH trial (EAY131) subprotocol Q.Annals of oncology : official journal of the European Society for Medical Oncology · 2019Trial
- Biological basis and clinical translation prospects of circulating cell-free DNA in precision management of breast cancer (Review).Oncology letters · 2026Review
- From multi-omics to deep learning: advances in cfDNA-based liquid biopsy for multi-cancer screening.Biomarker research · 2025Review
- Liquid Biopsy for Enhanced Specificity in Identifying Somatic Mutations in Aggressive Non-Hodgkin Large B-Cell Lymphoma: A Comparative Study of Cell-Free DNA and Formalin-Fixed Paraffin-Embedded Tissue.International journal of laboratory hematology · 2025Article
- A comparative study of four cell-free DNA assays for detecting circulating tumor DNA in early breast cancer.Breast cancer research : BCR · 2025Article
- Unraveling the role of withanolides as key modulators in breast cancer mitigation.Molecular biology reports · 2025Review
- Liquid biopsy in cancer current: status, challenges and future prospects.Signal transduction and targeted therapy · 2024Review
- c-MET-positive circulating tumor cells and cell-free DNA as independent prognostic factors in hormone receptor-positive/HER2-negative metastatic breast cancer.Breast cancer research : BCR · 2024Article
- The Evolution of Affordable Technologies in Liquid Biopsy Diagnostics: The Key to Clinical Implementation.Cancers · 2023Review
- Emerging ctDNA detection strategies in clinical cancer theranostics.Smart medicine · 2023Review
- A review of prognostic and predictive biomarkers in breast cancer.Clinical and experimental medicine · 2023Review
- Aquaporin-5 in breast cancer.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2022Review
- PEAC: An Ultrasensitive and Cost-Effective MRD Detection System in Non-small Cell Lung Cancer Using Plasma Specimen.Frontiers in medicine · 2022Article
- Targeted next generation sequencing of circulating tumor DNA provides prognostic information for management in breast cancer patients.Annals of translational medicine · 2022Article
- Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundBreast cancer tissues are heterogeneous and show diverse somatic mutations and somatic copy number alterations (CNAs). We used a novel targeted next generation sequencing (NGS) panel to examine cell-free DNA (cfDNA) to detect somatic mutations and gene amplification in women with metastatic breast cancer (MBC).
methodscfDNA from pretreated patients (n = 42) and 9 healthy controls were compared with matched lymphocyte DNA by NGS, using a custom 158 amplicon panel covering hot-spot mutations and CNAs in 16 genes, with further validation of results by droplet digital PCR.
resultsNo mutations were identified in cfDNA of healthy controls, whereas exactly half the patients with metastatic breast cancer had at least one mutation or amplification in cfDNA (mean 2, range 1-6) across a total of 13 genes. Longitudinal follow up showed dynamic changes to mutations and gene amplification in cfDNA indicating clonal and subclonal response to treatment that was more dynamic than cancer antigen 15-3 (CA15-3). Interestingly, at the time of blood sampling disease progression was occurring in 7 patients with erb-b2 receptor tyrosine kinase 2 (ERBB2) gene amplification in their cfDNA and 3 of these patients were human epidermal growth factor receptor 2 (HER2) negative at diagnosis, suggesting clonal evolution to a more aggressive phenotype. Lastly, 6 patients harbored estrogen receptor 1 (ESR1) mutations in cfDNA, suggesting resistance to endocrine therapy. Overall 9 of 42 patients (21%) had alterations in cfDNA that could herald a change in treatment.
conclusionsTargeted NGS of cfDNA has potential for monitoring response to targeted therapies through both mutations and gene amplification, for analysis of dynamic tumor heterogeneity and stratification to targeted therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.