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The analysis of circulating tumor DNA (ctDNA) provides a minimally-invasive molecular interrogation that has the potential to guide treatment selection and disease monitoring. Here, we 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 to 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 (BCa 95% CI 0.669 to 0.946). Our results indicate that the UltraSEEK melanoma panel is as sensitive as ddPCR for the detection of ctDNA 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.
This article was published in the following journal.
Name: The Journal of molecular diagnostics : JMD
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A method for analyzing and mapping differences in the copy number of specific genes or other large sequences between two sets of chromosomal DNA. It is used to look for large sequence changes such as deletions, duplications, or amplifications within the genomic DNA of an individual (with a tumor for example) or family members or population or between species.
Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.
DNA released from tumor cells that is found circulating in PLASMA; SERUM; or other BODY FLUIDS.
Cellular antigens that are specific for MELANOMA cells.
An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Bladder Cancer Brain Cancer Breast Cancer Cancer Cervical Cancer Colorectal Head & Neck Cancers Hodgkin Lymphoma Leukemia Lung Cancer Melanoma Myeloma Ovarian Cancer Pancreatic Cancer ...