ArticleGenome research2012
Genomic analysis of circulating cell-free DNA infers breast cancer dormancy.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 1 of them a synthesis that pooled it.
What it found
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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
83 citing papers in PubMed, 1 synthesis or guideline pooled it, 181 citations in OpenAlex.
- Value of circulating cell-free DNA analysis as a diagnostic tool for breast cancer: a meta-analysis.Oncotarget · 2017Pooled it
- Trial
- Current Trends in Liquid Biopsy Tracking Resistance in Molecular Breast Cancer-Targeted Therapies.Genes · 2025Review
- Review
- Serial Postoperative Circulating Tumor DNA Assessment Has Strong Prognostic Value During Long-Term Follow-Up in Patients With Breast Cancer.JCO precision oncology · 2024Article
- Circulating Tumor DNA Is a Variant of Liquid Biopsy with Predictive and Prognostic Clinical Value in Breast Cancer Patients.International journal of molecular sciences · 2023Review
- Omics-Based Investigations of Breast Cancer.Molecules (Basel, Switzerland) · 2023Review
- Dormant cancer cells: programmed quiescence, senescence, or both?Cancer metastasis reviews · 2023Review
- Clinical and Biological Aspects of Disseminated Tumor Cells and Dormancy in Breast Cancer.Frontiers in cell and developmental biology · 2022Review
- Role of circulating tumor DNA and circulating tumor cells in breast cancer: History and updates.SAGE open medicine · 2022Review
- Review
- The status of WIF1 methylation in cell-free DNA is associated with the insusceptibility for gefitinib in the treatment of lung cancer.Journal of cancer research and clinical oncology · 2021Article
- Breast cancer dormancy: need for clinically relevant models to address current gaps in knowledge.NPJ breast cancer · 2021Review
- Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer.Journal of translational medicine · 2021Article
- Utilization of circulating cell-free DNA profiling to guide first-line chemotherapy in advanced lung squamous cell carcinoma.Theranostics · 2021Article
- Circulating Tumor DNA Profiling From Breast Cancer Screening Through to Metastatic Disease.JCO precision oncology · 2021Article
- Epithelial-Mesenchymal Transition Programs and Cancer Stem Cell Phenotypes: Mediators of Breast Cancer Therapy Resistance.Molecular cancer research : MCR · 2020Review
- Utility of Circulating Tumor DNA for Detection and Monitoring of Endometrial Cancer Recurrence and Progression.Cancers · 2020Article
- Blood-Based Next-Generation Sequencing Analysis of Appendiceal Cancers.The oncologist · 2020Article
- Will traditional biopsy be substituted by radiomics and liquid biopsy for breast cancer diagnosis and characterisation?Medical oncology (Northwood, London, England) · 2020Review
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Biomarkers in breast cancer to monitor minimal residual disease have remained elusive. We hypothesized that genomic analysis of circulating free DNA (cfDNA) isolated from plasma may form the basis for a means of detecting and monitoring breast cancer. We profiled 251 genomes using Affymetrix SNP 6.0 arrays to determine copy number variations (CNVs) and loss of heterozygosity (LOH), comparing 138 cfDNA samples with matched primary tumor and normal leukocyte DNA in 65 breast cancer patients and eight healthy female controls. Concordance of SNP genotype calls in paired cfDNA and leukocyte DNA samples distinguished between breast cancer patients and healthy female controls (P < 0.0001) and between preoperative patients and patients on follow-up who had surgery and treatment (P = 0.0016). Principal component analyses of cfDNA SNP/copy number results also separated presurgical breast cancer patients from the healthy controls, suggesting specific CNVs in cfDNA have clinical significance. We identified focal high-level DNA amplification in paired tumor and cfDNA clustered in a number of chromosome arms, some of which harbor genes with oncogenic potential, including USP17L2 (DUB3), BRF1, MTA1, and JAG2. Remarkably, in 50 patients on follow-up, specific CNVs were detected in cfDNA, mirroring the primary tumor, up to 12 yr after diagnosis despite no other evidence of disease. These data demonstrate the potential of SNP/CNV analysis of cfDNA to distinguish between patients with breast cancer and healthy controls during routine follow-up. The genomic profiles of cfDNA infer dormancy/minimal residual disease in the majority of patients on follow-up.
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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.