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  • Clinical validation of the ...
    Thierry, Alain R; Mouliere, Florent; El Messaoudi, Safia; Mollevi, Caroline; Lopez-Crapez, Evelyne; Rolet, Fanny; Gillet, Brigitte; Gongora, Celine; Dechelotte, Pierre; Robert, Bruno; Del Rio, Maguy; Lamy, Pierre-Jean; Bibeau, Frederic; Nouaille, Michelle; Loriot, Virginie; Jarrousse, Anne-Sophie; Molina, Franck; Mathonnet, Muriel; Pezet, Denis; Ychou, Marc

    Nature Medicine, 04/2014, Letnik: 20, Številka: 4
    Journal Article, Magazine Article

    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.