Article
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Genes, chromosomes & cancer - 1 Nov 2016
Hahn Marc-Manuel, Vreede Lilian, Bemelmans Sonja A S A, van der Looij Erica, van Kessel Ad Geurts, Schackert Hans K, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline, Kuiper Roland P, de Voer Richarda M
Abstract excerpt
Germline mutations in BUB1B, encoding BUBR1, one of the crucial components of the spindle assembly checkpoint (SAC), have been shown to cause variable phenotypes, including the recessive mosaic variegated aneuploidy (MVA) syndrome, which predisposes to cancer. Reduced levels of the wild-type BUBR...
Topics
- Adolescent
- Adult
- Age of Onset
- Alleles
- Animals
- Cell Cycle Proteins
- Colorectal Neoplasms
- Female
- Germ-Line Mutation
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- M Phase Cell Cycle Checkpoints
- Male