ArticleNature communications2023
Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Prognostic, diagnostic and clinicopathological roles of tsRNAs: a meta-analysis in breast cancer.European journal of medical research · 2024Pooled it
- CfDNA-based copy-number dynamics during anti-PD1 treatment in metastatic triple negative breast cancer.Cell reports. Medicine · 2025Trial
- CDK4/6-Inhibitors Versus Chemotherapy in Advanced HR+/HER2-Negative Breast Cancer: Results and Correlative Biomarker Analyses of the KENDO Randomized Phase II Trial.The oncologist · 2024Trial
- Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer.Cancer research · 2026Article
- Toward generalizable prediction of cancer signal using a cell-free DNA language model.Cell reports. Medicine · 2026Article
- Transcriptionally Informed Nucleosome Profiling of Circulating Cell-Free DNA Predicts Breast Cancer Recurrence.Cancer research communications · 2026Article
- Quantitative HER2 tissue and plasma profiling predicts the activity of trastuzumab deruxtecan for breast cancer.NPJ precision oncology · 2026Article
- A computational framework for sensitive tumor detection and accurate subtyping using shallow cell-free DNA methylome sequencing.Genome medicine · 2026Article
- Ultra-low-pass whole-genome sequencing of bile cfDNA in patients with biliary strictures.eGastroenterology · 2026Article
- ctDNA detectability and representativeness in seven body liquids from patients with metastatic breast cancer.Nature communications · 2025Article
- Circulating tumor DNA in biliary tract cancers: A review of current applications.World journal of clinical oncology · 2025Review
- Article
- Personalized ctDNA monitoring in metastatic HR+/HER2- breast cancer patients during endocrine and CDK4/6 inhibitor therapy.NPJ breast cancer · 2025Article
- Clinical applications of next-generation sequencing-based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression.Molecular oncology · 2025Review
- Advances in CTC and ctDNA detection techniques: opportunities for improving breast cancer care.Breast cancer research : BCR · 2025Review
- A perspective review on the systematic implementation of ctDNA in phase I clinical trial drug development.Journal of experimental & clinical cancer research : CR · 2025Review
- ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.The journal of liquid biopsy · 2025Article
- Beyond Hormone Receptors: liquid biopsy tools to unveil new clinical meanings and empower therapeutic decision-making in Luminal-like metastatic breast cancer.Breast (Edinburgh, Scotland) · 2025Review
- Minimal residual disease as a target for liquid biopsy in patients with solid tumours.Nature reviews. Clinical oncology · 2025Review
- Perspectives for the clinical application of ctDNA analysis to breast cancer drug therapy.Breast cancer (Tokyo, Japan) · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Liquid biopsy has proven valuable in identifying individual genetic alterations; however, the ability of plasma ctDNA to capture complex tumor phenotypes with clinical value is unknown. To address this question, we have performed 0.5X shallow whole-genome sequencing in plasma from 459 patients with metastatic breast cancer, including 245 patients treated with endocrine therapy and a CDK4/6 inhibitor (ET + CDK4/6i) from 2 independent cohorts. We demonstrate that machine learning multi-gene signatures, obtained from ctDNA, identify complex biological features, including measures of tumor proliferation and estrogen receptor signaling, similar to what is accomplished using direct tumor tissue DNA or RNA profiling. More importantly, 4 DNA-based subtypes, and a ctDNA-based genomic signature tracking retinoblastoma loss-of-heterozygosity, are significantly associated with poor response and survival outcome following ET + CDK4/6i, independently of plasma tumor fraction. Our approach opens opportunities for the discovery of additional multi-feature genomic predictors coming from ctDNA in breast cancer and other cancer-types.
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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.