Towards systematic nomenclature for cell-free DNA.


Journal

Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873

Informations de publication

Date de publication:
Apr 2021
Historique:
received: 01 09 2020
accepted: 09 10 2020
pubmed: 31 10 2020
medline: 31 3 2021
entrez: 30 10 2020
Statut: ppublish

Résumé

Cell-free DNA (cfDNA) has become widely recognized as a promising candidate biomarker for minimally invasive characterization of various genomic disorders and other clinical scenarios. However, among the obstacles that currently challenge the general progression of the research field, there remains an unmet need for unambiguous universal cfDNA nomenclature. To address this shortcoming, we classify in this report the different types of cfDNA molecules that occur in the human body based on its origin, genetic traits, and locality. We proceed by assigning existing terms to each of these cfDNA subtypes, while proposing new terms and abbreviations where clarity is lacking and more precise stratification would be beneficial. We then suggest the proper usage of these terms within different contexts and scenarios, focusing mainly on the nomenclature as it relates to the domains of oncology, prenatal testing, and post-transplant surgery surveillance. We hope that these recommendations will serve as useful considerations towards the establishment of universal cfDNA nomenclature in the future. In addition, it is conceivable that many of these recommendations can be transposed to cell-free RNA nomenclature by simply exchanging "DNA" with "RNA" in each acronym/abbreviation. Similarly, when describing DNA and RNA collectively, the suffix can be replaced with "NAs" to indicate nucleic acids.

Identifiants

pubmed: 33123832
doi: 10.1007/s00439-020-02227-2
pii: 10.1007/s00439-020-02227-2
pmc: PMC7981329
doi:

Substances chimiques

Cell-Free Nucleic Acids 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

565-578

Subventions

Organisme : Montpellier SIRIC n°2015-045 SIRICEOTPR150773
ID : 2015-045 SIRICEOTPR150773

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Auteurs

Abel J Bronkhorst (AJ)

Institute for Laboratory Medicine, German Heart Centre, Technical University Munich, Lazarettstraße 36, 80636, Munich, Germany.

Vida Ungerer (V)

Institute for Laboratory Medicine, German Heart Centre, Technical University Munich, Lazarettstraße 36, 80636, Munich, Germany.

Frank Diehl (F)

Thrive Earlier Detection Corp., Cambridge, MA, USA.

Philippe Anker (P)

IRCM, Institute of Research in Oncology of Montpellier, Montpellier, France.
INSERM, U1194, Montpellier, France.
University of Montpellier, Montpellier, France.

Yuval Dor (Y)

Department of Developmental Biology and Cancer Research, The Hebrew University-Hadassah Medical School, 91120, Jerusalem, Israel.

Michael Fleischhacker (M)

DRK Kliniken Berlin Mitte, Klinik für Innere Medizin, Pneumologie und Schlafmedizin, Drontheimer Str. 39-40, 13359, Berlin, Germany.

Peter B Gahan (PB)

Fondazione "Enrico Puccinelli" Onlus, 06126, Perugia, Italy.

Lisa Hui (L)

Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC, Australia.
Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, VIC, Australia.
Department of Obstetrics and Gynaecology, The Northern Hospital, Epping, VIC, Australia.

Stefan Holdenrieder (S)

Institute for Laboratory Medicine, German Heart Centre, Technical University Munich, Lazarettstraße 36, 80636, Munich, Germany.

Alain R Thierry (AR)

IRCM, Institute of Research in Oncology of Montpellier, Montpellier, France. alain.thierry@inserm.fr.
INSERM, U1194, Montpellier, France. alain.thierry@inserm.fr.
University of Montpellier, Montpellier, France. alain.thierry@inserm.fr.
ICM, Regional Institute of Cancer of Montpellier, Montpellier, France. alain.thierry@inserm.fr.

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