ArticleThe Journal of molecular diagnostics : JMD2017
Single-Color Digital PCR Provides High-Performance Detection of Cancer Mutations from Circulating DNA.
Article in The Journal of molecular diagnostics : JMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed.
- LINE-1 266/97 and ALU 260/111 Copy Number Ratios in Circulating Cell-Free DNA in Plasma as Potential Biomarkers for the Detection of Prostate Cancer: A Pilot Case-Control Study.International journal of molecular sciences · 2025Article
- StratoLAMP: Label-free, multiplex digital loop-mediated isothermal amplification based on visual stratification of precipitate.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Single-copy detection of somatic variants from solid and liquid biopsy.Scientific reports · 2021Article
- Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes.Frontiers in genetics · 2021Article
- A Sensitive PCR-Based Method for Somatic Mutations Enrichment and Screening.Cancer management and research · 2021Article
- Cell free DNA as a diagnostic and prognostic marker for cardiovascular diseases.Clinica chimica acta; international journal of clinical chemistry · 2020Review
- Therapeutic Monitoring of Circulating DNA Mutations in Metastatic Cancer with Personalized Digital PCR.The Journal of molecular diagnostics : JMD · 2020Article
- Review
- Circulating cell-free high mobility group AT-hook 2 mRNA as a detection marker in the serum of colorectal cancer patients.Journal of clinical laboratory analysis · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
We describe a single-color digital PCR assay that detects and quantifies cancer mutations directly from circulating DNA collected from the plasma of cancer patients. This approach relies on a double-stranded DNA intercalator dye and paired allele-specific DNA primer sets to determine an absolute count of both the mutation and wild-type-bearing DNA molecules present in the sample. The cell-free DNA assay uses an input of 1 ng of nonamplified DNA, approximately 300 genome equivalents, and has a molecular limit of detection of three mutation DNA genome-equivalent molecules per assay reaction. When using more genome equivalents as input, we demonstrated a sensitivity of 0.10% for detecting the BRAF V600E and KRAS G12D mutations. We developed several mutation assays specific to the cancer driver mutations of patients' tumors and detected these same mutations directly from the nonamplified, circulating cell-free DNA. This rapid and high-performance digital PCR assay can be configured to detect specific cancer mutations unique to an individual cancer, making it a potentially valuable method for patient-specific longitudinal monitoring.
Indexed as
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What Socratic holds
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 Socratic graph.