Evidence map›Paper›PMID 31795494›Full record

ArticleCancers2019

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Russell J Diefenbach, Jenny H Lee, Dario Strbenac, Jean Y H Yang, Alexander M Menzies, Matteo S Carlino, Georgina V Long, Andrew J Spillane, Jonathan R Stretch, Robyn P M Saw and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 1 institution in 1 country.

Russell J DiefenbachDepartment of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
Jenny H LeeDepartment of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
Dario StrbenacSchool of Mathematics and Statistics, The University of Sydney, Sydney, NSW 2006, Australia.
Jean Y H YangSchool of Mathematics and Statistics, The University of Sydney, Sydney, NSW 2006, Australia.
Alexander M MenziesMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Matteo S CarlinoMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Georgina V LongMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Andrew J SpillaneMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Jonathan R StretchMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Robyn P M SawMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
John F ThompsonMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Sydney Ch'ngMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Richard A ScolyerMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Richard F KeffordMelanoma Institute Australia, The University of Sydney, Sydney, NSW 2065, Australia.
Helen RizosDepartment of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
The University of Sydney · AU

Funding

National Health and Medical Research Council APP1128951, APP1130423, APP1104503
6 · The paper itself

Abstract

The use of circulating tumor DNA (ctDNA) to monitor cancer progression and response to therapy has significant potential but there is only limited data on whether this technique can detect the presence of low frequency subclones that may ultimately confer therapy resistance. In this study, we sought to evaluate whether whole-exome sequencing (WES) of ctDNA could accurately profile the mutation landscape of metastatic melanoma. We used WES to identify variants in matched, tumor-derived genomic DNA (gDNA) and plasma-derived ctDNA isolated from a cohort of 10 metastatic cutaneous melanoma patients. WES parameters such as sequencing coverage and total sequencing reads were comparable between gDNA and ctDNA. The mutant allele frequency of common single nucleotide variants was lower in ctDNA, reflecting the lower read depth and minor fraction of ctDNA within the total circulating free DNA pool. There was also variable concordance between gDNA and ctDNA based on the total number and identity of detected variants and this was independent of the tumor biopsy site. Nevertheless, established melanoma driver mutations and several other melanoma-associated mutations were concordant between matched gDNA and ctDNA. This study highlights that WES of ctDNA could capture clinically relevant mutations present in melanoma metastases and that enhanced sequencing sensitivity will be required to identify low frequency mutations.

Indexed as

circulating tumor DNAmelanomawhole exome sequencing

Identifiers

PMID31795494
PMCPMC6966626
OpenAlexW2990712292

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.