Format

Send to

Choose Destination
Nat Genet. 2004 Nov;36(11):1159-61. Epub 2004 Oct 10.

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

Author information

1
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

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.

Comment in

PMID:
15475955
DOI:
10.1038/ng1449
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center