Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis

Abstract In cancer patients, circulating cell-free DNA (cfDNA) includes tumor-derived DNA (tDNA). cfDNA has been used clinically for non-invasive gene mutation testing. The aim of this study was to characterize the features of the genetic alterations detected in cfDNA. This study included 6 patients...

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Autores principales:	Hayato Koba, Hideharu Kimura, Taro Yoneda, Takashi Sone, Noriyuki Ohkura, Johsuke Hara, Kazuyoshi Hosomichi, Atsushi Tajima, Kazuo Kasahara
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/ad43e947b89543268697b1f2e5f2c70a
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spelling	oai:doaj.org-article:ad43e947b89543268697b1f2e5f2c70a2021-12-02T14:30:40ZMolecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis10.1038/s41598-021-87094-12045-2322https://doaj.org/article/ad43e947b89543268697b1f2e5f2c70a2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-87094-1https://doaj.org/toc/2045-2322Abstract In cancer patients, circulating cell-free DNA (cfDNA) includes tumor-derived DNA (tDNA). cfDNA has been used clinically for non-invasive gene mutation testing. The aim of this study was to characterize the features of the genetic alterations detected in cfDNA. This study included 6 patients with primary lung cancer who died due to cancer progression. Tumors were biopsied at autopsy. Genetic alteration profiles were obtained using next generation sequencing. The features of the tDNA genetic alterations detected in cfDNA included a higher frequency of being present in multiple tumors (67% truncal mutations, 36% shared mutations, and 4% individual mutations) and a higher variant allele frequency (VAF; 47.6% versus 4.1% for tDNA alterations detected in cfDNA versus not detected in cfDNA, respectively). The data revealed that the tumor-derived genetic alterations most easily detected in cfDNA were truncal mutations with a high VAF. These results showed that essential genetic alterations enriched in cfDNA could help to characterize cancer cells and that genetic testing using cfDNA has advantages in the detection of fundamental regulatory aberrations occurring during tumorigenesis.Hayato KobaHideharu KimuraTaro YonedaTakashi SoneNoriyuki OhkuraJohsuke HaraKazuyoshi HosomichiAtsushi TajimaKazuo KasaharaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hayato Koba Hideharu Kimura Taro Yoneda Takashi Sone Noriyuki Ohkura Johsuke Hara Kazuyoshi Hosomichi Atsushi Tajima Kazuo Kasahara Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
description	Abstract In cancer patients, circulating cell-free DNA (cfDNA) includes tumor-derived DNA (tDNA). cfDNA has been used clinically for non-invasive gene mutation testing. The aim of this study was to characterize the features of the genetic alterations detected in cfDNA. This study included 6 patients with primary lung cancer who died due to cancer progression. Tumors were biopsied at autopsy. Genetic alteration profiles were obtained using next generation sequencing. The features of the tDNA genetic alterations detected in cfDNA included a higher frequency of being present in multiple tumors (67% truncal mutations, 36% shared mutations, and 4% individual mutations) and a higher variant allele frequency (VAF; 47.6% versus 4.1% for tDNA alterations detected in cfDNA versus not detected in cfDNA, respectively). The data revealed that the tumor-derived genetic alterations most easily detected in cfDNA were truncal mutations with a high VAF. These results showed that essential genetic alterations enriched in cfDNA could help to characterize cancer cells and that genetic testing using cfDNA has advantages in the detection of fundamental regulatory aberrations occurring during tumorigenesis.
format	article
author	Hayato Koba Hideharu Kimura Taro Yoneda Takashi Sone Noriyuki Ohkura Johsuke Hara Kazuyoshi Hosomichi Atsushi Tajima Kazuo Kasahara
author_facet	Hayato Koba Hideharu Kimura Taro Yoneda Takashi Sone Noriyuki Ohkura Johsuke Hara Kazuyoshi Hosomichi Atsushi Tajima Kazuo Kasahara
author_sort	Hayato Koba
title	Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
title_short	Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
title_full	Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
title_fullStr	Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
title_full_unstemmed	Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
title_sort	molecular features of tumor-derived genetic alterations in circulating cell-free dna in virtue of autopsy analysis
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ad43e947b89543268697b1f2e5f2c70a
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Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis

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