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Sunday 23 November 2003

Aneuploidy is an abnormal chromosome number. Aneuploidy is never detected in normal cells. Aneuploidy is ubiquitous in human cancer and is seen as whole chromosome gains and losses, unbalanced translocations and inversions, duplications, deletions and loss of heterozygosity.

- aneuploidy is the most common characteristic of human solid tumours. It has therefore been proposed that aneuploidy contributes to, or even drives, tumour development.

- aneuploidy and the mitotic checkpoint

  • The mitotic checkpoint guards against chromosome mis-segregation by delaying cell-cycle progression through mitosis until all chromosomes have successfully made spindle-microtubule attachments.
  • Defects in the mitotic checkpoint generate aneuploidy and might facilitate tumorigenesis, but more severe disabling of checkpoint signalling is a possible anticancer strategy.


- constitutional aneuploidy
- tumoral aneuploidy

See also

- tumorigenesis


- Warren WD, Gorringe KL. A molecular model for sporadic human aneuploidy. Trends Genet. 2006 Apr;22(4):218-24. PMID: 16497408

- Cimini D, Degrassi F. Aneuploidy: a matter of bad connections. Trends Cell Biol. 2005 Aug;15(8):442-51. PMID: 16023855

- Kops GJ, Weaver BA, Cleveland DW. On the road to cancer: aneuploidy and the mitotic checkpoint. Nat Rev Cancer. 2005 Oct;5(10):773-85. PMID: 16195750

- Rajagopalan H, Lengauer C. Aneuploidy and cancer.Nature. 2004 Nov 18;432(7015):338-41. PMID: 15549096

- Matzke MA, Mette MF, Kanno T, Matzke AJ. Does the intrinsic instability of aneuploid genomes have a causal role in cancer ? Trends Genet. 2003 May ;19(5):253-6. PMID : 12711216


- Hertzberg L, Betts DR, Raimondi SC, Schafer BW, Notterman DA, Domany E, Izraeli S. Prediction of chromosomal aneuploidy from gene expression data. Genes Chromosomes Cancer. 2007 Jan;46(1):75-86. PMID: 17044051