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@article{1672824,
author = {Romžová, Marianna and Smitalová, Dagmar and Tom, Nikola and Jurček, Tomáš and Čulen, Martin and Žáčková, Daniela and Mayer, Jiří and Ráčil, Zdeněk},
article_location = {England},
article_number = {3},
doi = {http://dx.doi.org/10.1111/bjh.16382},
keywords = {next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance},
language = {eng},
issn = {0007-1048},
journal = {British journal of haematology},
title = {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},
url = {https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382},
volume = {189},
year = {2020}
}
TY - JOUR
ID - 1672824
AU - Romžová, Marianna - Smitalová, Dagmar - Tom, Nikola - Jurček, Tomáš - Čulen, Martin - Žáčková, Daniela - Mayer, Jiří - Ráčil, Zdeněk
PY - 2020
TI - 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
JF - British journal of haematology
VL - 189
IS - 3
SP - 469-474
EP - 469-474
PB - Wiley-Blackwell
SN - 00071048
KW - next generation sequencing
KW - illumina
KW - BCR-ABL1
KW - kinase domain mutation
KW - TKI resistance
UR - https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
L2 - https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
N2 - 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.
ER -
ROMŽOVÁ, Marianna, Dagmar SMITALOVÁ, Nikola TOM, Tomáš JURČEK, Martin ČULEN, Daniela ŽÁČKOVÁ, Jiří MAYER and Zdeněk RÁČIL. 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. \textit{British journal of haematology}. England: Wiley-Blackwell, 2020, vol.~189, No~3, p.~469-474. ISSN~0007-1048. Available from: https://dx.doi.org/10.1111/bjh.16382.
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