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

Varování

Publikace nespadá pod Filozofickou fakultu, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.

Autoři	ROMŽOVÁ Marianna SMITALOVÁ Dagmar TOM Nikola JURČEK Tomáš ČULEN Martin ŽÁČKOVÁ Daniela MAYER Jiří RÁČIL Zdeněk
Rok publikování	2020
Druh	Článek v odborném periodiku
Časopis / Zdroj	British journal of haematology
Fakulta / Pracoviště MU	Středoevropský technologický institut
Citace
www	https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
Doi	http://dx.doi.org/10.1111/bjh.16382
Klíčová slova	next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance
Popis	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.
Související projekty:	Mutační analýza primitivních buněčných populací u chronické myeloidní leukémie: za hranicí BCR-ABL1