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

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Circulating Nucleic Acids in Serum and Plasma – CNAPS IX

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.

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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

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  • 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

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Correspondence to Johannes Fredebohm or Frank Diehl .

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© 2016 Springer International Publishing Switzerland

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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

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