Extrachromosomal DNA in Cancer.
HSRs
cancer
ecDNA
ecDNA evolution
ecDNA hubs
enhancer hijacking
homogeneously staining regions
Journal
Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346
Informations de publication
Date de publication:
31 08 2022
31 08 2022
Historique:
pubmed:
25
5
2022
medline:
9
9
2022
entrez:
24
5
2022
Statut:
ppublish
Résumé
In cancer, complex genome rearrangements and other structural alterations, including the amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the formation and progression of tumors. ecDNA is a particularly challenging structural alteration. By untethering oncogenes from chromosomal constraints, it elevates oncogene copy number, drives intratumoral genetic heterogeneity, promotes rapid tumor evolution, and results in treatment resistance. The profound changes in DNA shape and nuclear architecture generated by ecDNA alter the transcriptional landscape of tumors by catalyzing new types of regulatory interactions that do not occur on chromosomes. The current suite of tools for interrogating cancer genomes is well suited for deciphering sequence but has limited ability to resolve the complex changes in DNA structure and dynamics that ecDNA generates. Here, we review the challenges of resolving ecDNA form and function and discuss the emerging tool kit for deciphering ecDNA architecture and spatial organization, including what has been learned to date about how this dramatic change in shape alters tumor development, progression, and drug resistance.
Identifiants
pubmed: 35609926
doi: 10.1146/annurev-genom-120821-100535
pmc: PMC10508221
mid: NIHMS1907774
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
29-52Subventions
Organisme : NCI NIH HHS
ID : OT2 CA278635
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM114362
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA264379
Pays : United States
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