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Concordance Between Comprehensive Cancer Genome Profiling in Plasma and Tumor Specimens

Monday, October 2, 2017

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Source Name: Journal of Thoracic Oncology


Judith N. Müller, Markus Falk, Jatin Talwar, Nicole Neemann, Erika Mariotti, Miriam Bertrand, Tobias Zacherle, Sotirios Lakis, Roopika Menon, Christian Gloeckner, Markus Tiemann, Lukas C. Heukamp, Roman K. Thomas, Frank Griesinger, Johannes M. Heuckmann

The authors demonstrated substantial concordance between sequencing of 39 genes in a liquid assay and routine diagnostic testing in tissue in 82 patients.  Agreement was 98%, and the primary reason for failure was low levels of circulating DNA in the plasma.  Sensitivity was 70%, and specificity was 100%.  The system offers accurate identification of driver mutations in plasma of patients with NSCLC.

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