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The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes

7 May 2025

Abstract excerpt

Aneuploidy, characterized by the gain or loss of chromosomes, plays a critical role in both cancer and congenital aneuploidy syndromes. For any aneuploidy, we can distinguish between its general effects and its chromosome-specific effects. General effects refer to the common cellular stresses induced by aneuploidy, such as impaired proliferation, proteotoxic stress, and altered metabolism, which occur regardless...

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PMID: 40333415
DOI: 10.1146/annurev-genom-111723-103557

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