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; Méhes K; Nash R; Robin N; Shannon N; Tolmie J; Swansbury J; Irrthum A; Douglas J; Rahman N

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.

Keywords: Abnormalities, Multiple/*genetics; Alleles; *Aneuploidy; Cell Cycle Proteins; Genetic Predisposition to Disease; Humans; Mitotic Spindle Apparatus; Molecular Sequence Data; Mosaicism; *Mutation; Neoplasms/*genetics; Protein Kinases/*genetics; Protein-Serine-Threonine Kinases

Journal: Nature genetics Volume: 36 Issue: 11 Pages: 1159-61 Date: Oct. 12, 2004 PMID: 15475955

Select reference article to upload leave this field blank to prove your humanity

Citation:

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: 1159-61.

Lifespan Factors:

BUB1B budding uninhibited by benzimidazoles 1 homolog beta (yeast)

---

---

Back to top

---