Tracing the Origin of Cell-Free DNA Molecules through Tissue-Specific Epigenetic Signatures.
cell-free DNA
epigenetics
liquid biopsy
tissue-of-origin
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
29 Jul 2022
29 Jul 2022
Historique:
received:
14
06
2022
revised:
15
07
2022
accepted:
25
07
2022
entrez:
26
8
2022
pubmed:
27
8
2022
medline:
27
8
2022
Statut:
epublish
Résumé
All cell and tissue types constantly release DNA fragments into human body fluids by various mechanisms including programmed cell death, accidental cell degradation and active extrusion. Particularly, cell-free DNA (cfDNA) in plasma or serum has been utilized for minimally invasive molecular diagnostics. Disease onset or pathological conditions that lead to increased cell death alter the contribution of different tissues to the total pool of cfDNA. Because cfDNA molecules retain cell-type specific epigenetic features, it is possible to infer tissue-of-origin from epigenetic characteristics. Recent research efforts demonstrated that analysis of, e.g., methylation patterns, nucleosome occupancy, and fragmentomics determined the cell- or tissue-of-origin of individual cfDNA molecules. This novel tissue-of origin-analysis enables to estimate the contributions of different tissues to the total cfDNA pool in body fluids and find tissues with increased cell death (pathologic condition), expanding the portfolio of liquid biopsies towards a wide range of pathologies and early diagnosis. In this review, we summarize the currently available tissue-of-origin approaches and point out the next steps towards clinical implementation.
Identifiants
pubmed: 36010184
pii: diagnostics12081834
doi: 10.3390/diagnostics12081834
pmc: PMC9406971
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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