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Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA

Abstract : Assessment of KRAS status is mandatory in patients with metastatic colorectal cancer (mCRC) before applying targeted therapy. We describe here a blinded prospective study to compare KRAS and BRAF mutation status data obtained from the analysis of tumor tissue by routine gold-standard methods and of plasma DNA using a quantitative PCR-based method specifically designed to analyze circulating cell-free DNA (cfDNA). The mutation status was determined by both methods from 106 patient samples. cfDNA analysis showed 100% specificity and sensitivity for the BRAF V600E mutation. For the seven tested KRAS point mutations, the method exhibited 98% specificity and 92% sensitivity with a concordance value of 96%. Mutation load, expressed as the proportion of mutant alleles in cfDNA, was highly variable (0.5-64.1%, median 10.5%) among mutated samples. CfDNA was detected in 100% of patients with mCRC. This study shows that liquid biopsy through cfDNA analysis could advantageously replace tumor-section analysis and expand the scope of personalized medicine for patients with cancer.
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https://hal.umontpellier.fr/hal-02168071
Contributor : Cécile Nowak <>
Submitted on : Friday, June 28, 2019 - 1:50:30 PM
Last modification on : Friday, March 5, 2021 - 5:16:02 PM

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Alain Thierry, Florent Mouliere, Safia El Messaoudi, Caroline Mollevi, E. Lopez-Crapez, et al.. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nature Medicine, Nature Publishing Group, 2014, 20, pp.430--5. ⟨10.1038/nm.3511⟩. ⟨hal-02168071⟩

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