Clinical validation and implementation of droplet digital PCR for the detection of BRAF mutations from cell-free DNA

R Arnolda; K Howlett; T Chan; J Raleigh; A Hatzimihalis; A Bell; A Fellowes; S Sandhu; GA McArthur; SB Fox; SJ Dawson; C Hewitt; K Jones; SQ Wong

Journal article

Clinical validation and implementation of droplet digital PCR for the detection of BRAF mutations from cell-free DNA

R Arnolda, K Howlett, T Chan, J Raleigh, A Hatzimihalis, A Bell, A Fellowes, S Sandhu, GA McArthur, SB Fox, SJ Dawson, C Hewitt, K Jones, SQ Wong

Pathology | ELSEVIER | Published : 2022

DOI: 10.1016/j.pathol.2022.02.010

Abstract

Droplet digital PCR (ddPCR) has been demonstrated in many research studies to be a sensitive method in the analysis of circulating tumour DNA (ctDNA) for identifying mutations and tracking disease. The transition of ddPCR into the diagnostic setting requires a number of critical steps including the assessment of accuracy and precision and ultimately implementation into clinical use. Here we present the clinical validation of ddPCR for the detection of BRAF mutations (V600E and V600K) from plasma. We describe the performance characteristics assessed including the limit of blank, limit of detection, ruggedness, accuracy, precision and the effect of the matrix. Overall, each assay could achieve..

View full abstract

University of Melbourne Researchers

Grant McArthur Author

Sarah-Jane Dawson Author

Related Projects (2)

ONCOGENIC SIGNALING AND CANCER THERAPY

Central to improving the management of patients with cancer is an understanding of the molecular drivers of cancer. Based on our fundamental..

CIRCULATING TUMOUR DNA AS A NONINVASIVE BIOMARKER IN MELANOMA

The expanding repertoire of treatment options in melanoma is bringing into focus the need for improved ways to accurately monitor treatment ..

Grants

Awarded by Sylvia and Charles Viertel Charitable Foundation

Funding Acknowledgements

Conflicts of interest and sources of funding: This work is supported by the Peter MacCallum Cancer Foundation, the National Health and Medical Research Council (program grant APP1053792, project grant APP1107126) , a Gundry Perpetual Endowment for melanoma research and funding from the Viertel Charitable Foundation. SQW received travel and accommodation funding from Bio-Rad Laboratories. The authors state that there are no other conflicts of interest to disclose.