Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen Firth, David FitzPatrick, Alexa Kidd, Károly Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman

Research output: Article

417 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1159-1161
Number of pages3
JournalNature genetics
Volume36
Issue number11
DOIs
Publication statusPublished - nov. 1 2004

ASJC Scopus subject areas

  • Genetics

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    Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., FitzPatrick, D., Kidd, A., Méhes, K., Nash, R., Robin, N., Shannon, N., Tolmie, J., Swansbury, J., Irrthum, A., Douglas, J., & Rahman, N. (2004). Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nature genetics, 36(11), 1159-1161. https://doi.org/10.1038/ng1449