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Several studies have shown that mutations in ctDNA exactly correspond to mutations from the primary tumor, includ- ing both point mutations and structural alterations such as copy-number changes and rearrangements.
Analysis of Point Mutations
For detection of somatic point mutations as biomarkers, the earliest analyses involved mutation-speci?
In addition to using somatic point mutations as mark- ers for the detection of tumor-derived DNA, other strategies for the detection of ctDNA have been developed, including genome-wide detection of rearrangements and chromosomal copy-number changes.
Sensitivity of detection by focused approaches ranges from approximately 1:500,000 for mutant:wild-type DNA sequences when analyzing rearrangements (85) to approximately 1:20,000 for point mutations (69).
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