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Early proof-of-concept of DNA-based NGS to detect gene fusions was demonstrated in a panel of breast cancer cell line and tissues [1]. However, detection of NTRK gene fusions by DNA-based NGS is complicated by the large intronic spaces within the genes, particularly for the NTRK3 gene. This can result in false negative results with DNA-based NGS platforms [2].

Figure 11: Overview of DNA- and RNA-based NGS


  1. Stephens PJ, McBride DJ, Lin ML et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 2009; 462: 1005-1010.
  2. Cocco E, Scaltriti M, Drilon A. NTRK fusion-positive cancers and TRK inhibitor therapy. Nat Rev Clin Oncol 2018; 15: 731-747.

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