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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Authors: Hanks, S  Coleman, K  Reid, S  Plaja, A  Firth, H  Fitzpatrick, D  Kidd, A  Mehes, K  Nash, R  Robin, N  Shannon, N  Tolmie, J  Swansbury, J  Irrthum, A  Douglas, J  Rahman, N 
Citation: Hanks S, etal., Nat Genet. 2004 Nov;36(11):1159-61. Epub 2004 Oct 10.
Pubmed: (View Article at PubMed) PMID:15475955
DOI: Full-text: DOI:10.1038/ng1449

Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, we identified truncating and missense mutations of BUB1B, which encodes BUBR1, a key protein in the mitotic spindle checkpoint. These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development.

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RGD Object Information
RGD ID: 1600540
Created: 2007-03-13
Species: All species
Last Modified: 2007-03-13
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.