Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstream the breakpoints in chronic myeloid leukemia using next generation sequencing

被引：0
作者：
Jana Linhartova
Lenka Hovorkova
Simona Soverini
Adela Benesova
Monika Jaruskova
Hana Klamova
Jan Zuna
Katerina Machova Polakova
机构：
[1] Institute of Hematology and Blood Transfusion,CLIP, Department of Paediatric Haematology and Oncology
[2] 2nd Faculty of Medicine,Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology “L. e A. Seragnoli”
[3] Charles University Prague and University Hospital Motol,Institute of Clinical and Experimental Hematology of First Faculty of Medicine and Institute of Hematology and Blood Transfusion
[4] University of Bologna,undefined
[5] Charles University,undefined
来源：
Molecular Cancer | / 14卷
关键词：
BCR-ABL; Cancer; MRD; CML; SNP; NGS;
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摘要：
In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the development of personalized medicine approach for minimal residual disease monitoring at the DNA level. Next generation sequencing (NGS) of amplicons larger than 1000 bp simplified and accelerated a process of characterization of patient-specific BCR-ABL1 genomic fusions. NGS of large regions upstream and downstream the individual breakpoints in BCR and ABL1 genes, respectively, also provided information about the sequence variants such are single nucleotide polymorphisms.
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