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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genomic Analysis of Circulating Tumor DNA Using a Melanoma-Specific UltraSEEK Oncogene Panel
Journal of Molecular Diagnostics, Volume 21, No. 3, Year 2019
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Description
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 0.826 (bias-corrected and accelerated 95% CI, 0.669–0.946). These results indicate that the UltraSEEK melanoma panel is as sensitive as droplet digital PCR for the detection of circulating tumor DNA in this cohort of patients but highlight the need for detected variants to be confirmed orthogonally to mitigate any false-positive results. The MassARRAY system enables rapid and sensitive genotyping for the detection of multiple melanoma–associated mutations in plasma. © 2019 American Society for Investigative Pathology and the Association for Molecular Pathology
Authors & Co-Authors
Gray, Elin Solomonovna
Australia, Perth
Edith Cowan University
Witkowski, Tom
Australia, Melbourne
Austin Health
Khattak, Muhammad Adnan
Australia, Perth
Edith Cowan University
Australia, Perth
The University of Western Australia
Australia, Perth
Fiona Stanley Hospital
Cebon, Jonathan Simon
Australia, Melbourne
Austin Health
Sandhu, Shahneen K.
Australia, Melbourne
Peter Maccallum Cancer Centre
McArthur, Grant A.
Australia, Melbourne
Peter Maccallum Cancer Centre
Millward, Michael J.
Australia, Perth
The University of Western Australia
Australia, Perth
Sir Charles Gairdner Hospital
Ziman, Mel
Australia, Perth
Edith Cowan University
Australia, Perth
The University of Western Australia
Dobrovic, Alexander N.
Australia, Melbourne
Austin Health
Australia, Melbourne
La Trobe University
Australia, Melbourne
University of Melbourne
Statistics
Citations: 16
Authors: 9
Affiliations: 8
Identifiers
Doi:
10.1016/j.jmoldx.2018.12.001
ISSN:
15251578
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study