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dc.contributor.authorMouliere, Florent
dc.contributor.authorMair, Richard
dc.contributor.authorChandrananda, Sandunie
dc.contributor.authorMarass, Francesco
dc.contributor.authorSmith, Christopher
dc.contributor.authorSu, Jing
dc.contributor.authorMorris, James
dc.contributor.authorWatts, Colin
dc.contributor.authorBrindle, Kevin
dc.contributor.authorRosenfeld, Nitzan
dc.date.accessioned2018-12-07T00:30:40Z
dc.date.available2018-12-07T00:30:40Z
dc.date.issued2018-12
dc.identifier.issn1757-4676
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/286382
dc.description.abstractGlioma is difficult to detect or characterize using current liquid biopsy approaches. Detection of cell-free tumor DNA (cftDNA) in cerebrospinal fluid (CSF) has been proposed as an alternative to detection in plasma. We used shallow whole-genome sequencing (sWGS, at a coverage of < 0.4×) of cell-free DNA from the CSF of 13 patients with primary glioma to determine somatic copy number alterations and DNA fragmentation patterns. This allowed us to determine the presence of cftDNA in CSF without any prior knowledge of point mutations present in the tumor. We also showed that the fragmentation pattern of cell-free DNA in CSF is different from that in plasma. This low-cost screening method provides information on the tumor genome and can be used to target those patients with high levels of cftDNA for further larger-scale sequencing, such as by whole-exome and whole-genome sequencing.
dc.format.mediumPrint
dc.languageeng
dc.publisherEMBO
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectCerebrospinal Fluid
dc.subjectHumans
dc.subjectGlioma
dc.subjectDNA Fragmentation
dc.subjectWhole Genome Sequencing
dc.subjectCirculating Tumor DNA
dc.titleDetection of cell-free DNA fragmentation and copy number alterations in cerebrospinal fluid from glioma patients.
dc.typeArticle
prism.issueIdentifier12
prism.publicationDate2018
prism.publicationNameEMBO Mol Med
prism.volume10
dc.identifier.doi10.17863/CAM.33695
dcterms.dateAccepted2018-10-15
rioxxterms.versionofrecord10.15252/emmm.201809323
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-12
dc.contributor.orcidMouliere, Florent [0000-0001-7043-0514]
dc.contributor.orcidMair, Richard [0000-0001-8235-5689]
dc.contributor.orcidChandrananda, Sandunie [0000-0002-8834-9500]
dc.contributor.orcidSmith, Christopher [0000-0001-7357-2737]
dc.contributor.orcidBrindle, Kevin [0000-0003-3883-6287]
dc.contributor.orcidRosenfeld, Nitzan [0000-0002-2825-4788]
dc.identifier.eissn1757-4684
rioxxterms.typeJournal Article/Review
pubs.funder-project-idCancer Research UK (CB4100)
pubs.funder-project-idAddenbrooke's Charitable Trust (ACT) (unknown)
pubs.funder-project-idCancer Research UK (C14303/A17197)
pubs.funder-project-idCancer Research Uk (None)
pubs.funder-project-idCancer Research UK (C48525/A18345)
pubs.funder-project-idEuropean Research Council (337905)
cam.issuedOnline2018-11-06


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International