Journal home
Advance online publication
Current issue
Archive
Press releases
Free Association (blog)
Supplements
Focuses
Guide to authors
Online submissionOnline submission
For referees
Free online issue
Contact the journal
Subscribe
Advertising
work@npg
Reprints and permissions
About this site
For librarians
 
NPG Resources
Nature
Nature Biotechnology
Nature Cell Biology
Nature Medicine
Nature Methods
Nature Reviews Cancer
Nature Reviews Genetics
Nature Reviews Molecular Cell Biology
news@nature.com
Nature Conferences
RNAi Gateway
NPG Subject areas
Biotechnology
Cancer
Chemistry
Clinical Medicine
Dentistry
Development
Drug Discovery
Earth Sciences
Evolution & Ecology
Genetics
Immunology
Materials Science
Medical Research
Microbiology
Molecular Cell Biology
Neuroscience
Pharmacology
Physics
Browse all publications
Brief Communication
Nature Genetics  36, 1159 - 1161 (2004)
Published online: 10 October 2004; | doi:10.1038/ng1449

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks1, Kim Coleman1, Sarah Reid1, Alberto Plaja2, Helen Firth3, David FitzPatrick4, Alexa Kidd5, Károly Méhes6, Richard Nash3, Nathanial Robin7, Nora Shannon8, John Tolmie9, John Swansbury10, Alexandre Irrthum1, Jenny Douglas1 & Nazneen Rahman1

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

2  Unitat de Genetica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

3  Medical Genetics Department, Addenbrooke's Hospital, Cambridge, UK.

4  MRC Human Genetics Unit, Edinburgh, Scotland.

5  Central Regional Genetic Services, Wellington Hospital, Wellington, New Zealand.

6  Department of Medical Genetics and Child Development, University of Pécs, Hungary.

7  Department for Human Genetics, Case Western Reserve University, Cleveland, Ohio, USA.

8  West Midland Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK.

9  Institute of Medical Genetics, Glasgow, Scotland.

10  Section of Haemato-oncology, Institute of Cancer Research, Sutton, Surrey, UK.

Correspondence should be addressed to Nazneen Rahman nazneen.rahman@icr.ac.uk
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.


MORE ARTICLES LIKE THIS

These links to content published by NPG are automatically generated.

NEWS AND VIEWS

From spindle checkpoint to cancer

Nature Genetics News and Views (01 Nov 2004)

 Top
Abstract
Previous | Next
Table of contents
Full textFull text
Download PDFDownload PDF
Send to a friendSend to a friend

Open Innovation Challenges

Figures & Tables
See also: News and Views by Lengauer & Wang
Export citation
natureproducts

Search buyers guide:

 
ADVERTISEMENT
 
Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
Journal home | Advance online publication | Current issue | Archive | Press releases | Supplements | Focuses | For authors | Online submission | Permissions | For referees | Free online issue | About the journal | Contact the journal | Subscribe | Advertising | work@npg | naturereprints | About this site | For librarians
Nature Publishing Group, publisher of Nature, and other science journals and reference works©2004 Nature Publishing Group | Privacy policy