Journal article

Genomic Analysis of Circulating Tumor DNA Using a Melanoma-Specific UltraSEEK Oncogene Panel

ES Gray, T Witkowski, M Pereira, L Calapre, K Herron, D Irwin, B Chapman, MA Khattak, J Raleigh, A Hatzimihalis, J Cebon, S Sandhu, GA McArthur, M Millward, M Ziman, A Dobrovic, SQ Wong

Journal of Molecular Diagnostics | ELSEVIER SCIENCE INC | Published : 2019

Abstract

The analysis of circulating tumor DNA provides a minimally invasive molecular interrogation that has the potential to guide treatment selection and disease monitoring. Here, the authors evaluated a custom UltraSEEK melanoma panel for the MassARRAY system, probing for 61 mutations over 13 genes. The analytical sensitivity and clinical accuracy of the UltraSEEK melanoma panel was compared with droplet digital PCR. The blinded analysis of 68 mutations detected in 48 plasma samples from stage IV melanoma patients revealed a concordance of 88% between the two platforms. Further comparison of both methods for the detection of BRAF V600E mutations in 77 plasma samples demonstrated a Cohen's κ of 0...

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University of Melbourne Researchers

Grants

Awarded by National Health and Medical Research Council


Funding Acknowledgements

Supported by the Peter MacCallum Cancer Foundation, Gundry Perpetual Endowment 1607 (S.Q.W.), a Cancer Research Trust fellowship (E.S.G.), Western Australia Cancer Council grant 1100249 (E.S.G.), and National Health and Medical Research Council (NHMRC) grant 1046711 (M.Z.).