Skip to main content
Book cover

Circulating Nucleic Acids in Serum and Plasma – CNAPS IX pp 187–189Cite as

Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS

Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 924)

Abstract

We have designed a highly sensitive assay based on the Safe-SeqS technology to detect de novo mutations in the KIT gene and tested its performance. This assay was applied to plasma samples of GIST patients before and after treatment with a multikinase inhibitor and mutations at known and novel sites of potential secondary resistance were identified.

Keywords

  • ctDNA
  • KIT
  • Safe-SeqS
  • Secondary resistance
  • GIST
  • NGS

This is a preview of subscription content, access via your institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-3-319-42044-8_34
  • Chapter length: 3 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   149.00
Price excludes VAT (USA)
  • ISBN: 978-3-319-42044-8
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD   199.99
Price excludes VAT (USA)
Hardcover Book
USD   279.99
Price excludes VAT (USA)
Learn about institutional subscriptions
Fig. 34.1
Fig. 34.2
Fig. 34.3

References

  • COSMIC (cancer.sanger.ac.uk), Forbes SA et al (2015) COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucl Acids Res 43(D1):D805–D811

    Google Scholar 

  • Kinde I, Wu J, Papadopoulos N et al (2011) Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A 108(23):9530–9535

    CrossRef  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany

    Johannes Fredebohm, Daniel H. Mehnert, Ann-Kathrin Löber, Frank Holtrup, Vanessa van Rahden, Philipp Angenendt & Frank Diehl

Authors
  1. Johannes Fredebohm
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Daniel H. Mehnert
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ann-Kathrin Löber
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Frank Holtrup
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Vanessa van Rahden
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Philipp Angenendt
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Frank Diehl
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Johannes Fredebohm or Frank Diehl .

Editor information

Editors and Affiliations

  1. ICRM, Inserm, Montpellier Cedex, France

    Peter B. Gahan

  2. Universitätsklinikum Halle (Saale), Klinik für Innere Medizin, Schwerpunkt Pneumologie, Halle/Saale, Germany

    Michael Fleischhacker

  3. Universitätsklinikum Halle (Saale), Klinik für Innere Medizin, Schwerpunkt Pneumologie, Halle/Saale, Germany

    Bernd Schmidt

Rights and permissions

Reprints and Permissions

Copyright information

© 2016 Springer International Publishing Switzerland

About this paper

Cite this paper

Fredebohm, J. et al. (2016). Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS. In: Gahan, P., Fleischhacker, M., Schmidt, B. (eds) Circulating Nucleic Acids in Serum and Plasma – CNAPS IX. Advances in Experimental Medicine and Biology, vol 924. Springer, Cham. https://doi.org/10.1007/978-3-319-42044-8_34

Download citation