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- W4247462008 abstract "Abstract Next-generation sequencing (NGS) of circulating tumor DNA (ctDNA) is a non-invasive method to guide therapy selection for cancer patients. ctDNA variant allele frequency (VAF) is commonly reported and may aid in discerning whether a variant is germline or somatic. We report on the fidelity of VAF in ctDNA as a predictor for germline variant carriage. Two patient cohorts were studied. Cohort 1 included patients with known germline variants. Cohort 2 included patients with any variant detected by the ctDNA assay with VAF of 40–60%. In cohort 1, 36 of 91 (40%) known germline variants were identified through ctDNA analysis with a VAF of 39-87.6%. In cohort 2, 111 of 160 (69%) variants identified by ctDNA analysis with a VAF between 40–60% were found to be germline. Therefore, variants with a VAF between 40–60% should induce suspicion for germline status but should not be used as a replacement for germline testing." @default.
- W4247462008 created "2022-05-12" @default.
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- W4247462008 date "2021-03-02" @default.
- W4247462008 modified "2023-10-15" @default.
- W4247462008 title "Identification of Germline Cancer Predisposition Variants During Clinical Ctdna Testing" @default.
- W4247462008 doi "https://doi.org/10.21203/rs.3.rs-256641/v1" @default.
- W4247462008 hasPublicationYear "2021" @default.
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