Chromothripsis, DNA repair and checkpoints defects.
Semin Cell Dev Biol
; 123: 110-114, 2022 03.
Article
em En
| MEDLINE
| ID: mdl-33589336
ABSTRACT
Chromothripsis is a unique form of genome instability characterized by tens to hundreds of DNA double-strand breaks on one or very few chromosomes, followed by error-prone repair. The derivative chromosome(s) display massive rearrangements, which lead to the loss of tumor suppressor function and to the activation of oncogenes. Chromothripsis plays a major role in cancer as well as in other conditions, such as congenital diseases. In this review, we discuss the repair processes involved in the rejoining of the chromosome fragments, the role of DNA repair and checkpoint defects as a cause for chromothripsis as well as DNA repair defects resulting from chromothripsis. Finally, we consider clinical implications and potential therapeutic vulnerabilities that could be utilized to eliminate tumor cells with chromothripsis.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromotripsia
Limite:
Humans
Idioma:
En
Revista:
Semin Cell Dev Biol
Assunto da revista:
EMBRIOLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Alemanha