ArticleBMC cancer2023
Fragment length profiles of cancer mutations enhance detection of circulating tumor DNA in patients with early-stage hepatocellular carcinoma.
Article in BMC cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Risk Prediction of Early-Onset Hepatocellular Carcinoma: Derivation and Validation in a Nationwide Young Adult Cohort.Alimentary pharmacology & therapeutics · 2026Article
- Toward generalizable prediction of cancer signal using a cell-free DNA language model.Cell reports. Medicine · 2026Article
- Exploring the Predictive Value of Circulating Cell-Free DNA Within a Multiparameter Panel for Hepatocellular Carcinoma Detection.Life (Basel, Switzerland) · 2026Article
- Data-Driven Feedback Identifies Focused Ultrasound Exposure Regimens for Improved Nanotheranostic Targeting of the Brain.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Machine learning-based cfDNA fragmentation profiling using automated capillary electrophoresis for early detection of hepatocellular carcinoma.Communications medicine · 2026Article
- Liquid biopsies in precision oncology for older adults with cancer.NPJ precision oncology · 2026Review
- Evaluating cell-free DNA integrity index as a non-invasive biomarker for neoadjuvant chemotherapy in colorectal cancer patients.BMC cancer · 2025Article
- Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.The Journal of molecular diagnostics : JMD · 2025Article
- Data-driven feedback augments ultrasound nanotheranostics in brain tumors.bioRxiv : the preprint server for biology · 2025Article
- Cost-effective shallow genome-wide sequencing for profiling plasma cfDNA signatures to enhance lung cancer detection.Future oncology (London, England) · 2025Article
- The Current Role of Circulating Cell-Free DNA in the Management of Hepatocellular Carcinoma.Cancers · 2025Review
- Liquid biopsy in hepatocellular carcinoma: Challenges, advances, and clinical implications.Clinical and molecular hepatology · 2025Review
- Mining nucleic acid "omics" to boost liquid biopsy in cancer.Cell reports. Medicine · 2024Review
- Biomarkers for diagnosis and therapeutic options in hepatocellular carcinoma.Molecular cancer · 2024Review
- Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks.Journal of translational medicine · 2024Article
- Use of ctDNA in early breast cancer: analytical validity and clinical potential.NPJ breast cancer · 2024Review
- Genetic screening of liver cancer: State of the art.World journal of hepatology · 2024Review
- Battle of the biopsies: Role of tissue and liquid biopsy in hepatocellular carcinoma.Journal of hepatology · 2024Review
- Review
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Authors and funding
28 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLate detection of hepatocellular carcinoma (HCC) results in an overall 5-year survival rate of less than 16%. Liquid biopsy (LB) assays based on detecting circulating tumor DNA (ctDNA) might provide an opportunity to detect HCC early noninvasively. Increasing evidence indicates that ctDNA detection using mutation-based assays is significantly challenged by the abundance of white blood cell-derived mutations, non-tumor tissue-derived somatic mutations in plasma, and the mutational tumor heterogeneity.
methodsHere, we employed concurrent analysis of cancer-related mutations, and their fragment length profiles to differentiate mutations from different sources. To distinguish persons with HCC (PwHCC) from healthy participants, we built a classification model using three fragmentomic features of ctDNA through deep sequencing of thirteen genes associated with HCC.
resultsOur model achieved an area under the curve (AUC) of 0.88, a sensitivity of 89%, and a specificity of 82% in the discovery cohort consisting of 55 PwHCC and 55 healthy participants. In an independent validation cohort of 54 PwHCC and 53 healthy participants, the established model achieved comparable classification performance with an AUC of 0.86 and yielded a sensitivity and specificity of 81%.
conclusionsOur study provides a rationale for subsequent clinical evaluation of our assay performance in a large-scale prospective study.
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