BACKGROUND: Circulating @entity5 DNA (ctDNA) carries information on @entity5 burden. However, the mutation spectrum is different among @entity5 . This study was designed to examine the utility of ctDNA for monitoring @entity5 burden based on an individual mutation profile. METHODOLOGY: DNA was extracted from a total of 176 samples, including pre- and post-operational plasma, @entity5 , and peripheral blood mononuclear cells (PBMC), from 44 individuals with @entity14 who underwent curative resection of @entity14 , as well as nine healthy individuals. Using a panel of 50 @entity5 -associated genes, @entity5 -unique mutations were identified by comparing the single @entity4334 variants (SNVs) from @entity5 and PBMCs with an Ion PGM sequencer. A group of the @entity5 -unique mutations from individual @entity5 were designated as individual marker mutations (MMs) to trace @entity5 burden by ctDNA using droplet digital PCR (ddPCR). From these experiments, three major objectives were assessed: (a) Tumor-unique mutations; (b) mutation spectrum of a @entity5 ; and (c) changes in allele frequency of the MMs in ctDNA after curative resection of the @entity5 . RESULTS: A total of 128 gene point mutations were identified in 27 @entity14 . Twenty-six genes were mutated in at least 1 sample, while 14 genes were found to be mutated in only 1 sample, respectively. An average of 2.7 genes were mutated per @entity5 . Subsequently, 24 MMs were selected from SNVs for @entity5 burden monitoring. Among the MMs found by ddPCR with > 0.1% variant allele frequency in plasma DNA, 100% (8 out of 8) exhibited a decrease in post-operation ctDNA, whereas none of the 16 MMs found by ddPCR with < 0.1% variant allele frequency in plasma DNA showed a decrease. CONCLUSIONS: This panel of 50 @entity5 -associated genes appeared to be sufficient to identify individual, @entity5 -unique, mutated ctDNA markers in @entity5 @entity1 . The MMs showed the clinical utility in monitoring curatively-treated @entity14 burden if the allele frequency of MMs in plasma DNA is above 0.1%.

Individualized Mutation Detection in Circulating Tumor DNA for Monitoring XXXX Burden Using a Cancer-Associated Gene Sequencing Panel.

@entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'primary tumors', 'cancer', 'tumors'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity4334 :: ('D009711', 'Chemical') :: ['nucleotide'] @entity14 :: ('MESH:D015179', 'Disease') :: ['colorectal tumor', 'colorectal tumors']
@entity14 :: (MESH:D015179,Disease) :: ['Colorectal Tumor']
