ArticleClinical cancer research : an official journal of the American Association for Cancer Research2017
Mutation Analysis of Cell-Free DNA and Single Circulating Tumor Cells in Metastatic Breast Cancer Patients with High Circulating Tumor Cell Counts.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 4 of them syntheses that pooled it.
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Who cites it
129 citing papers in PubMed, 4 syntheses or guidelines pooled it, 224 citations in OpenAlex.
- Dynamic circulating tumor DNA profiling of ESR1 mutations in HR+/HER2- advanced breast cancer: from prognostic biomarker to clinical decision-making - a comprehensive review.Frontiers in oncology · 2026Pooled it
- Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA.Clinical epigenetics · 2021Pooled it
- Liquid biopsy prediction of axillary lymph node metastasis, cancer recurrence, and patient survival in breast cancer: A meta-analysis.Medicine · 2018Pooled it
- Pooled it
- Circulating tumour DNA dynamics during alternating chemotherapy and hormonal therapy in metastatic breast cancer: the ALERT study.Breast cancer research and treatment · 2024Trial
- Association of Circulating Tumor Cell Status With Benefit of Radiotherapy and Survival in Early-Stage Breast Cancer.JAMA oncology · 2018Trial
- 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
- Molecular features unique to circulating tumor DNA enable the tumor-naïve liquid biopsy of glioblastoma.NPJ precision oncology · 2026Article
- Genetic barcoding uncovers the clonal makeup of solid and liquid biopsies and their ability to capture intra-tumoral heterogeneity.Molecular systems biology · 2026Article
- Single-cell profiling reveals distinct populations of tumor-associated macrophages and metastatic tumor cells in breast cancer brain metastasis.Cell death & disease · 2026Article
- Circulating cell-free DNA as an integrative biomarker in breast cancer: correlation with molecular subtypes, mutation status, and treatment response.Frontiers in oncology · 2026Article
- Role of circulating tumor cell clusters in breast cancer.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2026Review
- Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.BMC cancer · 2025Article
- Hologenomic analysis of rectal mucus sampling for detection of adenomatous polyps and colorectal cancer.Nature communications · 2025Article
- From multi-omics to deep learning: advances in cfDNA-based liquid biopsy for multi-cancer screening.Biomarker research · 2025Review
- Target sequence of single cells captured by a polymeric microfluidic device.Scientific reports · 2025Article
- 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
- Diagnosis and monitoring of breast cancer with a novel circulating tumor cells enrichment device.Biomarkers in medicine · 2025Article
- Advances in CTC and ctDNA detection techniques: opportunities for improving breast cancer care.Breast cancer research : BCR · 2025Review
- Dual Biomarker Strategies for Liquid Biopsy: Integrating Circulating Tumor Cells and Circulating Tumor DNA for Enhanced Tumor Monitoring.Biosensors · 2025Review
69 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe purpose of this study was to directly compare mutation profiles in multiple single circulating tumor cells (CTC) and cell-free DNA (cfDNA) isolated from the same blood samples taken from patients with metastatic breast cancer (MBC). We aimed to determine whether cfDNA would reflect the heterogeneity observed in 40 single CTCs. EXPERIMENTAL
designCTCs were enumerated by CELLSEARCH. CTC count was compared with the quantity of matched cfDNA and serum CA15-3 and alkaline phosphatase (ALP) in 112 patients with MBC. In 5 patients with ≥100 CTCs, multiple individual EpCAM-positive CTCs were isolated by DEPArray and compared with matched cfDNA and primary tumor tissue by targeted next-generation sequencing (NGS) of about 2,200 mutations in 50 cancer genes.
resultsIn the whole cohort, total cfDNA levels and cell counts (≥5 CTCs) were both significantly associated with overall survival, unlike CA15-3 and ALP. NGS analysis of 40 individual EpCAM-positive CTCs from 5 patients with MBC revealed mutational heterogeneity in PIK3CA, TP53, ESR1, and KRAS genes between individual CTCs. In all 5 patients, cfDNA profiles provided an accurate reflection of mutations seen in individual CTCs. ESR1 and KRAS gene mutations were absent from primary tumor tissue and therefore likely either reflect a minor subclonal mutation or were acquired with disease progression.
conclusionsOur results demonstrate that cfDNA reflects persisting EpCAM-positive CTCs in patients with high CTC counts and therefore may enable monitoring of the metastatic burden for clinical decision-making. Clin Cancer Res; 23(1); 88-96. ©2016 AACR.
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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.