Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia


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ROMŽOVÁ Marianna SMITALOVÁ Dagmar TOM Nikola JURČEK Tomáš ČULEN Martin ŽÁČKOVÁ Daniela MAYER Jiří RÁČIL Zdeněk

Year of publication 2020
Type Article in Periodical
Magazine / Source British journal of haematology
MU Faculty or unit

Central European Institute of Technology

Keywords next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance
Description The occurrence of mutations in the BCR-ABL1 kinase domain (KD) can lead to treatment resistance in chronic myeloid leukaemia patients. Nowadays, next-generation sequencing (NGS) is an alternative method for the detection of kinase domain mutations, compared to routinely used Sanger sequencing, providing a higher sensitivity of mutation detection. However, in the protocols established so far multiple rounds of amplification limit reliable mutation detection to approximately 5% variant allele frequency. Here, we present a simplified, one-round amplification NGS protocol for the Illumina platform, which offers a robust early detection of BCR-ABL1 KD mutations with a reliable detection limit of 3% variant allele frequency.
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