ArticleCancer medicine2019
Detection of mutations in circulating cell-free DNA in relation to disease stage in colorectal cancer.
Article in Cancer medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Reliability of BRAF mutation detection using plasma sample: A systematic review and meta-analysisMedicine · 2021Pooled it
- Pooled it
- A comprehensive toolkit for analyzing cell-free DNA genomic sequencing data in liquid biopsy.iScience · 2026Article
- Longitudinal multiomics analysis of endocrine therapy effects and gut microbiota in breast cancer recurrence.Communications medicine · 2026Article
- Detection ofOncology research · 2026Article
- Advances in Targeted and Chemotherapeutic Strategies for Colorectal Cancer: Current Insights and Future Directions.Biomedicines · 2025Review
- Liquid Biopsy in Neuropsychiatric Disorders: A Step Closer to Precision Medicine.Molecular neurobiology · 2025Review
- Hypobaric hypoxia modulated structural characteristics of circulating cell-free DNA in high-altitude pulmonary edema.American journal of physiology. Lung cellular and molecular physiology · 2024Article
- Multimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection.Genome medicine · 2024Article
- Circulating Nucleic Acids in Colorectal Cancer: Diagnostic and Prognostic Value.Disease markers · 2024Review
- Preoperative ctDNA Levels Are Associated With Poor Overall Survival in Patients With Ovarian Cancer.Cancer genomics & proteomics · 2023Article
- Genomic and Transcriptomic Research in the Discovery and Application of Colorectal Cancer Circulating Markers.International journal of molecular sciences · 2023Review
- Analysis of Circulating Tumor DNA in Synchronous Metastatic Colorectal Cancer at Diagnosis Predicts Overall Patient Survival.International journal of molecular sciences · 2023Article
- Article
- IMP1/IGF2BP1 in human colorectal cancer extracellular vesicles.American journal of physiology. Gastrointestinal and liver physiology · 2022Article
- Article
- Rapid Multiplex Strip Test for the Detection of Circulating Tumor DNA Mutations for Liquid Biopsy Applications.Biosensors · 2022Article
- Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.Oncogene · 2021Article
- Review
- Digital next-generation sequencing of cell-free DNA for pancreatic cancer.JGH open : an open access journal of gastroenterology and hepatology · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enthusiasm has emerged for the potential of liquid biopsies to provide easily accessible genetic biomarkers for early diagnosis and mutational cancer characterization. We here systematically investigated the suitability of circulating cell-free DNA (cfDNA) analysis for mutation detection in colorectal cancer (CRC) patients with respect to clinicopathological disease stage. Droplet Digital PCR (ddPCR) was performed to detect common point mutations in the KRAS and BRAF oncogenes in cfDNA from 65 patients and compared to mutations in tumor tissue. Stage of disease was classified according to UICC (Union for International Cancer Control) criteria. In tumor tissue, KRAS or BRAF mutations were present in 35 of 65 cases (44% UICC stage I, 50% stage II, 47% stage III, and 62% stage IV). Although cfDNA was detected in 100% of patients, ddPCR displayed the tumor tissue mutation in only 1 of 6 (17%) stage II patients, whereas 10 of 18 (56%) reported variants were verified in cfDNA samples of the stage IV cohort. No BRAF or KRAS mutation was detected in cfDNA from patients with wild-type tumor tissue. In one case of mutant stage II colon cancer (KRAS-G12C), the G12D variant was detected in cfDNA instead. Further workup revealed that circulating tumor-derived DNA and liver metastases originated from a synchronous KRAS-mutated cancer of the pancreas. Our results demonstrate that ddPCR-based analysis is highly specific and useful for mutation monitoring, but the sensitivity limits its usefulness for early cancer detection.
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