Distinct Features of Plasma Ultrashort Single-Stranded Cell-Free DNA as Biomarkers for Lung Cancer Detection.

BACKGROUND: Using broad range cell-free DNA sequencing (BRcfDNA-Seq), a nontargeted next-generation sequencing (NGS) methodology, we previously identified a novel class of approximately 50 nt ultrashort singlestranded cell-free DNA (uscfDNA) in plasma that is distinctly different from 167 bp mononuc...

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Published in:Clinical Chemistry Vol. 69; no. 11; pp. 1270 - 1283
Main Authors: Cheng, Jordan, Swarup, Neeti, Feng Li, Kordi, Misagh, Chien-Chung Lin, Szu-Chun Yang, Wei-Lun Huang, Aziz, Mohammad, Yong Kim, Chia, David, Yu-Min Yeh, Fang Wei, Zheng, David, Liying Zhang, Pellegrini, Matteo, Wu-Chou Su, Wong, David T. W.
Format: Journal Article
Published: Oxford University Press / USA Nov2023
Online Access:View this record in EBSCOhost
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      dt: Nov2023
      vid: 69
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      pub: Oxford University Press / USA
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        10.1093/clinchem/hvad131
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        atl: Distinct Features of Plasma Ultrashort Single-Stranded Cell-Free DNA as Biomarkers for Lung Cancer Detection.
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        au:
          Cheng, Jordan
          Swarup, Neeti
          Feng Li
          Kordi, Misagh
          Chien-Chung Lin
          Szu-Chun Yang
          Wei-Lun Huang
          Aziz, Mohammad
          Yong Kim
          Chia, David
          Yu-Min Yeh
          Fang Wei
          Zheng, David
          Liying Zhang
          Pellegrini, Matteo
          Wu-Chou Su
          Wong, David T. W.
        affil: School of Dentistry, University of California, Los Angeles, Los Angeles, CA, United States
      sug:
      ab: BACKGROUND: Using broad range cell-free DNA sequencing (BRcfDNA-Seq), a nontargeted next-generation sequencing (NGS) methodology, we previously identified a novel class of approximately 50 nt ultrashort singlestranded cell-free DNA (uscfDNA) in plasma that is distinctly different from 167 bp mononucleosomal cell-free DNA (mncfDNA). We hypothesize that uscfDNA possesses characteristics that are useful for disease detection. METHODS: Using BRcfDNA-Seq, we examined both cfDNA populations in the plasma of 18 noncancer controls and 14 patients with late-stage nonsmall cell lung carcinoma (NSCLC). In comparison to mncfDNA, we assessed whether functional element (FE) peaks, fragmentomics, end-motifs, and G-Quadruplex (G-Quad) signatures could be useful features of uscfDNA for NSCLC determination. RESULTS: In noncancer participants, compared to mncfDNA, uscfDNA fragments showed a 45.2-fold increased tendency to form FE peaks (enriched in promoter, intronic, and exonic regions), demonstrated a distinct end-motif-frequency profile, and presented with a 4.9-fold increase in G-Quad signatures. Within NSCLC participants, only the uscfDNA population had discoverable FE peak candidates. Additionally, uscfDNA showcased different end-motif-frequency candidates distinct from mncfDNA. Although both cfDNA populations showed increased fragmentation in NSCLC, the G-Quad signatures were more discriminatory in uscfDNA. Compilation of cfDNA features using principal component analysis revealed that the first 5 principal components of both cfDNA subtypes had a cumulative explained variance of >80%. CONCLUSIONS: These observations indicate that the distinct biological processes of uscfDNA and that FE peaks, fragmentomics, end-motifs, and G-Quad signatures are uscfDNA features with promising biomarker potential. These findings further justify its exploration as a distinct class of biomarker to augment pre-existing liquid biopsy approaches.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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