Fragment Length of Circulating Tumor DNA.

Malignant tumors shed DNA into the circulation. The transient half-life of circulating tumor DNA (ctDNA) may afford the opportunity to diagnose, monitor recurrence, and evaluate response to therapy solely through a non-invasive blood draw. However, detecting ctDNA against the normally occurring back...

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Main Authors: Hunter R Underhill, Jacob O Kitzman, Sabine Hellwig, Noah C Welker, Riza Daza, Daniel N Baker, Keith M Gligorich, Robert C Rostomily, Mary P Bronner, Jay Shendure
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-07-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006162&type=printable
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author Hunter R Underhill
Jacob O Kitzman
Sabine Hellwig
Noah C Welker
Riza Daza
Daniel N Baker
Keith M Gligorich
Robert C Rostomily
Mary P Bronner
Jay Shendure
author_facet Hunter R Underhill
Jacob O Kitzman
Sabine Hellwig
Noah C Welker
Riza Daza
Daniel N Baker
Keith M Gligorich
Robert C Rostomily
Mary P Bronner
Jay Shendure
author_sort Hunter R Underhill
collection DOAJ
description Malignant tumors shed DNA into the circulation. The transient half-life of circulating tumor DNA (ctDNA) may afford the opportunity to diagnose, monitor recurrence, and evaluate response to therapy solely through a non-invasive blood draw. However, detecting ctDNA against the normally occurring background of cell-free DNA derived from healthy cells has proven challenging, particularly in non-metastatic solid tumors. In this study, distinct differences in fragment length size between ctDNAs and normal cell-free DNA are defined. Human ctDNA in rat plasma derived from human glioblastoma multiforme stem-like cells in the rat brain and human hepatocellular carcinoma in the rat flank were found to have a shorter principal fragment length than the background rat cell-free DNA (134-144 bp vs. 167 bp, respectively). Subsequently, a similar shift in the fragment length of ctDNA in humans with melanoma and lung cancer was identified compared to healthy controls. Comparison of fragment lengths from cell-free DNA between a melanoma patient and healthy controls found that the BRAF V600E mutant allele occurred more commonly at a shorter fragment length than the fragment length of the wild-type allele (132-145 bp vs. 165 bp, respectively). Moreover, size-selecting for shorter cell-free DNA fragment lengths substantially increased the EGFR T790M mutant allele frequency in human lung cancer. These findings provide compelling evidence that experimental or bioinformatic isolation of a specific subset of fragment lengths from cell-free DNA may improve detection of ctDNA.
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spelling doaj-art-51be2cc80ef6462197e8973b012953582025-08-20T02:03:35ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042016-07-01127e100616210.1371/journal.pgen.1006162Fragment Length of Circulating Tumor DNA.Hunter R UnderhillJacob O KitzmanSabine HellwigNoah C WelkerRiza DazaDaniel N BakerKeith M GligorichRobert C RostomilyMary P BronnerJay ShendureMalignant tumors shed DNA into the circulation. The transient half-life of circulating tumor DNA (ctDNA) may afford the opportunity to diagnose, monitor recurrence, and evaluate response to therapy solely through a non-invasive blood draw. However, detecting ctDNA against the normally occurring background of cell-free DNA derived from healthy cells has proven challenging, particularly in non-metastatic solid tumors. In this study, distinct differences in fragment length size between ctDNAs and normal cell-free DNA are defined. Human ctDNA in rat plasma derived from human glioblastoma multiforme stem-like cells in the rat brain and human hepatocellular carcinoma in the rat flank were found to have a shorter principal fragment length than the background rat cell-free DNA (134-144 bp vs. 167 bp, respectively). Subsequently, a similar shift in the fragment length of ctDNA in humans with melanoma and lung cancer was identified compared to healthy controls. Comparison of fragment lengths from cell-free DNA between a melanoma patient and healthy controls found that the BRAF V600E mutant allele occurred more commonly at a shorter fragment length than the fragment length of the wild-type allele (132-145 bp vs. 165 bp, respectively). Moreover, size-selecting for shorter cell-free DNA fragment lengths substantially increased the EGFR T790M mutant allele frequency in human lung cancer. These findings provide compelling evidence that experimental or bioinformatic isolation of a specific subset of fragment lengths from cell-free DNA may improve detection of ctDNA.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006162&type=printable
spellingShingle Hunter R Underhill
Jacob O Kitzman
Sabine Hellwig
Noah C Welker
Riza Daza
Daniel N Baker
Keith M Gligorich
Robert C Rostomily
Mary P Bronner
Jay Shendure
Fragment Length of Circulating Tumor DNA.
PLoS Genetics
title Fragment Length of Circulating Tumor DNA.
title_full Fragment Length of Circulating Tumor DNA.
title_fullStr Fragment Length of Circulating Tumor DNA.
title_full_unstemmed Fragment Length of Circulating Tumor DNA.
title_short Fragment Length of Circulating Tumor DNA.
title_sort fragment length of circulating tumor dna
url https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1006162&type=printable
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