Identification of germline cancer predisposition variants during clinical ctDNA testing

Abstract Next-generation sequencing 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...

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Autores principales:	Leigh Anne Stout, Nawal Kassem, Cynthia Hunter, Santosh Philips, Milan Radovich, Bryan P. Schneider
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/0cc58bca3e134f00802d49538b3886c5
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spelling	oai:doaj.org-article:0cc58bca3e134f00802d49538b3886c52021-12-02T16:10:50ZIdentification of germline cancer predisposition variants during clinical ctDNA testing10.1038/s41598-021-93084-02045-2322https://doaj.org/article/0cc58bca3e134f00802d49538b3886c52021-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-93084-0https://doaj.org/toc/2045-2322Abstract Next-generation sequencing 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 and 60% were found to be germline. Therefore, variants with a VAF between 40 and 60% should induce suspicion for germline status but should not be used as a replacement for germline testing.Leigh Anne StoutNawal KassemCynthia HunterSantosh PhilipsMilan RadovichBryan P. SchneiderNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Leigh Anne Stout Nawal Kassem Cynthia Hunter Santosh Philips Milan Radovich Bryan P. Schneider Identification of germline cancer predisposition variants during clinical ctDNA testing
description	Abstract Next-generation sequencing 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 and 60% were found to be germline. Therefore, variants with a VAF between 40 and 60% should induce suspicion for germline status but should not be used as a replacement for germline testing.
format	article
author	Leigh Anne Stout Nawal Kassem Cynthia Hunter Santosh Philips Milan Radovich Bryan P. Schneider
author_facet	Leigh Anne Stout Nawal Kassem Cynthia Hunter Santosh Philips Milan Radovich Bryan P. Schneider
author_sort	Leigh Anne Stout
title	Identification of germline cancer predisposition variants during clinical ctDNA testing
title_short	Identification of germline cancer predisposition variants during clinical ctDNA testing
title_full	Identification of germline cancer predisposition variants during clinical ctDNA testing
title_fullStr	Identification of germline cancer predisposition variants during clinical ctDNA testing
title_full_unstemmed	Identification of germline cancer predisposition variants during clinical ctDNA testing
title_sort	identification of germline cancer predisposition variants during clinical ctdna testing
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/0cc58bca3e134f00802d49538b3886c5
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Identification of germline cancer predisposition variants during clinical ctDNA testing

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