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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
Author(s) -
Romzova Marianna,
Smitalova Dagmar,
Tom Nikola,
Jurcek Tomas,
Culen Martin,
Zackova Daniela,
Mayer Jiri,
Racil Zdenek
Publication year - 2020
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16382
Subject(s) - sanger sequencing , myeloid leukemia , dna sequencing , mutation , biology , computational biology , genetics , cancer research , gene
Summary 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.