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High-throughput, sensitive and quantitative assay for the detection of BCR-ABL kinase domain mutations

Leukemia volume 21, pages 1318–1321 (2007)Cite this article

The causative molecular event in chronic myeloid leukemia (CML) is the genetic transposition of ABL and BCR sequences to form a BCR-ABL fusion gene, leading to the expression of a constitutively active tyrosine kinase.1 Inhibition of BCR-ABL Kinase activity with the small molecule drug imatinib (IM) results in a rapid hematologic response and has revolutionized the therapy of CML patients.2 Resistance to IM is a growing clinical problem, resulting in many cases from the acquisition of mutations in the BCR-ABL kinase domain (KD). Detection of specific mutations directs changes in management such as the use of new tyrosine kinase inhibitors or stem cell transplantation. For this reason, periodic genotyping of the BCR-ABL KD to screen for drug-resistant mutations may play an important role in the management of CML patients.3

We developed a sensitive and quantitative high-throughput assay using SEQUENOM MassARRAY system that enables fast and reliable detection of mutations in the BCR-ABL KD.

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Acknowledgements

This work was supported by a grant from the Israel Cancer Association (AV, YC). Authors contributions: AV performed the research and wrote the paper; NA designed the research; OAF performed research; MKM analyzed data; AN analyzed data; GR designed the research and analyzed data; YC designed the research and analyzed data.

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Authors and Affiliations

  1. Cancer Research Center, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel

    A Vivante, N Amariglio, M Koren-Michowitz, O Ashur-Fabian, G Rechavi & Y Cohen

  2. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

    N Amariglio, M Koren-Michowitz, A Nagler, G Rechavi & Y Cohen

  3. Division of Hematology, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel

    M Koren-Michowitz & A Nagler

  4. Department of Gynecologic Oncology, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel

    Y Cohen

Authors
  1. A Vivante
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  2. N Amariglio
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  3. M Koren-Michowitz
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  4. O Ashur-Fabian
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  5. A Nagler
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  6. G Rechavi
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  7. Y Cohen
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Corresponding author

Correspondence to Y Cohen.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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Vivante, A., Amariglio, N., Koren-Michowitz, M. et al. High-throughput, sensitive and quantitative assay for the detection of BCR-ABL kinase domain mutations. Leukemia 21, 1318–1321 (2007). https://doi.org/10.1038/sj.leu.2404635

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