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. 2021 May 20;25(4):389–408. doi: 10.1007/s40291-021-00534-6

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.

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Fig. 2 — Profile of publications from 2016 to 2020 using NGS for mutation-based ctDNA detection. A PubMed query^a was used to initiate a search in each year for publications with a total sample size ≥ 10. Publications that sought to detect ctDNA associated with minimal residual disease were excluded. The list is first grouped by year (Yr), then disease severity, and finally by whether or not the mutation-based search for ctDNA was tumour informed. The reference (Ref) column identifies the citation. When feasible, data associated with different disease severities are presented separately and the reference number is non-black to support matching of data from the same source. In one study (Ref. [112]), data obtained with and without a tumour-informed search were merged and separation was not possible (marked ‘Both’). Sensitivity (Sens) represents a study value corresponding to the mutation-based detection of ctDNA to determine presence/absence of a malignancy. The associated sample size is presented in the adjacent column (Patients). Specificity (Spec) is reported only if obtained from healthy control data. Sensitivity and specificity values should be interpreted cautiously as calculations can vary substantially within and between publications. For example, in Ref. [131] the authors report detection of ctDNA in 55% of patients. However, no mutations identified in solid tumour DNA were present in ccfDNA, so sensitivity is also shown at 0% for a tumour-informed search. To gain adequate contextual understanding of values, reviewing the publication’s supplemental data may be necessary. ccfDNA circulating cell-free DNA, ctDNA circulating tumour DNA, mixed = cancers from different organs, NB neuroblastoma. *Specificity not calculated, controls used to determine error rate (< 3.3 × 10⁻⁷ false positive mutation calls per base); ^†controls used for error modelling; **specificity not calculated, median error rate of 0.03 non-silent single nucleotide variants per Mb; ^††specificity not calculated, 307 of 342 targeted positions error free. ^aPubMed query: (cell-free DNA[Title]) AND (cancer) AND (("YEAR/01/01"[Date - Publication] : "YEAR/12/31"[Date - Publication]) AND (next-generation sequencing) AND (circulating))