The diagnostic accuracy of digital PCR, ARMS and NGS for detecting KRAS mutation in cell-free DNA of patients with colorectal cancer: a systematic review and meta-analysis

Project Summary Title and Description

The diagnostic accuracy of digital PCR, ARMS and NGS for detecting KRAS mutation in cell-free DNA of patients with colorectal cancer: a systematic review and meta-analysis
It is required to determine KRAS mutation status in tumor before anti-EGFR therapy is given to patients with colorectal cancer. However, in some recurrent or metastatic colorectal cancer patients, tumor tissue is not available. As an alternative, KRAS mutation detection in cell-free DNA/liquid biopsy samples has been intensively studied using highly sensitive methods. The aim of this systemic review and meta-analysis was to investigate the accuracy of KRAS mutation detection in cell-free DNA sample from patients with colorectal cancer, compared to paired tissue sample.
Authors of Report
Methodology description
Literature search was performed in Pubmed, Embase, and Cochrane Library. After removing duplicates from the 170 publications found during literature search, eligible studies were identified using the following exclusion criteria: 1) not a human study; 2) not describing KRAS mutation; 3) no liquid biopsy samples or tissue samples included; 4) did not use any techniques among digital PCR, ARMS and NGS; 5) not colorectal cancer; 6) reviews, abstracts, letter to the editor, comments, case reports, or studies with un-interpretable data. Quality of the publications and relevant data were assessed and extracted by two independent researchers. Meta-DiSc and STATA software were used to pool the accuracy parameters from the extracted data.
Web address of our report in the AHRQ website: Data were entered into this project prospectively.
Funding Source
National Natural Science Foundation of China

Key Questions

1. What is the accuracy of KRAS mutation detection in cell-free DNA sample from patients with colorectal cancer, compared to paired tissue sample?

Associated Extraction Forms

Associated Studies (each link opens a new tab)

Title Authors Year
Detection of RAS/BRAF mutations in the ctDNA of mCRC patients by NGS technique 2017
Circulating Tumor Cells and Circulating Tumor DNA Detection in Potentially Resectable Metastatic Colorectal Cancer: A Prospective Ancillary Study to the Unicancer Prodige-14 Trial. 2019
KRAS and BRAF mutations in circulating tumour DNA from locally advanced rectal cancer. 2018
Liquid biopsy-based tumor profiling for metastatic colorectal cancer patients with ultra-deep targeted sequencing. 2020
Genomic Assessment of Blood-Derived Circulating Tumor DNA in Patients With Colorectal Cancers: Correlation With Tissue Sequencing, Therapeutic Response, and Survival. 2019
Correlation of genomic alterations between tumor tissue and circulating tumor DNA by next-generation sequencing. 2018
Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy). 2018
Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer. 2016
Prospective blinded study of somatic mutation detection in cell-free DNA utilizing a targeted 54-gene next generation sequencing panel in metastatic solid tumor patients. 2015
Performance of four platforms for KRAS mutation detection in plasma cell-free DNA: ddPCR, Idylla, COBAS z480 and BEAMing.
Circulating Tumor DNA Is Capable of Monitoring the Therapeutic Response and Resistance in Advanced Colorectal Cancer Patients Undergoing Combined Target and Chemotherapy. 2020
Guardant360 Circulating Tumor DNA Assay Is Concordant with FoundationOne Next-Generation Sequencing in Detecting Actionable Driver Mutations in Anti-EGFR Naive Metastatic Colorectal Cancer. 2020
Enrichment technique to allow early detection and monitor emergence of KRAS mutation in response to treatment. 2019
Microarray Approach Combined with ddPCR: An Useful Pipeline for the Detection and Quantification of Circulating Tumour dna Mutations. 2019
Genomic Profiling of Blood-Derived Circulating Tumor DNA from Patients with Colorectal Cancer: Implications for Response and Resistance to Targeted Therapeutics. 2019
Detection of mutations in circulating cell-free DNA in relation to disease stage in colorectal cancer. 2019
Clinical relevance of circulating tumor DNA assessed through deep sequencing in patients with metastatic colorectal cancer. 2019
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients. 2019
Monitoring circulating tumor DNA revealed dynamic changes in 2018
RAS/BRAF Circulating Tumor DNA Mutations as a Predictor of Response to First-Line Chemotherapy in Metastatic Colorectal Cancer Patients. 2018
Monitoring colorectal cancer following surgery using plasma circulating tumor DNA. 2018
RAS testing of liquid biopsy correlates with the outcome of metastatic colorectal cancer patients treated with first-line FOLFIRI plus cetuximab in the CAPRI-GOIM trial. 2018
Prospective multicenter real-world RAS mutation comparison between OncoBEAM-based liquid biopsy and tissue analysis in metastatic colorectal cancer. 2018
Somatic mutation detection using various targeted detection assays in paired samples of circulating tumor DNA, primary tumor and metastases from patients undergoing resection of colorectal liver metastases. 2016
Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients. 2017
Concordance of blood- and tumor-based detection of RAS mutations to guide anti-EGFR therapy in metastatic colorectal cancer.
Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing. 2017
Plasma ctDNA RAS mutation analysis for the diagnosis and treatment monitoring of metastatic colorectal cancer patients. 2017
Carrier molecules and extraction of circulating tumor DNA for next generation sequencing in colorectal cancer. -- Not Found --
Limits and potential of targeted sequencing analysis of liquid biopsy in patients with lung and colon carcinoma. 2016
Utility of KRAS mutation detection using circulating cell-free DNA from patients with colorectal cancer. 2016
Circulating free DNA as biomarker and source for mutation detection in metastatic colorectal cancer.
Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. 2013

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