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

Hanks S ¹,

Coleman K ,

Reid S ,

Plaja A ,

Kidd A ,

Nash R ,

Affiliations

1. Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Authors
Hanks S¹
(1 author)

ORCIDs linked to this article

Nature Genetics, 10 Oct 2004, 36(11):1159-1161
https://doi.org/10.1038/ng1449 PMID: 15475955

A comment on this article appears in "From spindle checkpoint to cancer." Nat Genet. 2004 Nov;36(11):1144-5.

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.

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References

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BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability.
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Diseases in OMIM (3)

PREMATURE CHROMATID SEPARATION TRAIT; PCS(OMIM - 176430)
BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,(OMIM - 602860)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1(OMIM - 257300)

Proteins in UniProt (2)

BUB1B(UniProt - D6PW95)
Mitotic checkpoint serine/threonine-protein kinase BUB1 beta(UniProt - O60566)

GlyGen is an international glycobioinformatics knowledgebase funded by The National Institutes of Health to facilitate glycoscience research by integrating diverse kinds of information, including glycomics, genomics, proteomics (and glycoproteomics), cell biology, developmental biology and biochemistry.

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

Affiliations

ORCIDs linked to this article

Abstract

Full text links

References

The spindle checkpoint, aneuploidy, and cancer.

Chromosome segregation and genomic stability.

Genetic instabilities in human cancers.

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.

High risk of malignancy in mosaic variegated aneuploidy syndrome.

Mad2-Independent inhibition of APCCdc20 by the mitotic checkpoint protein BubR1.

Activating and silencing the mitotic checkpoint through CENP-E-dependent activation/inactivation of BubR1.

Citations & impact

Impact metrics

Citations of article over time

Alternative metrics

Article citations

HURP regulates Kif18A recruitment and activity to synergistically control microtubule dynamics.

Recent insights into the causes and consequences of chromosome mis-segregation.

Mosaic variegated aneuploidy in development, ageing and cancer.

Patterns of Aneuploidy and Signaling Consequences in Cancer.

BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability.

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Diseases in OMIM (3)

Proteins in UniProt (2)

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

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