The spindle assembly checkpoint controls proper chromosome segregation during mitosis and prevents aneuploidy, an important feature of cancer cells.
Dr Richarda de Voer and colleagues performed genome-wide and targeted copy number and mutation analyses of germline DNA
|Mutations in the spindle assembly checkpoint genes BUB and BUB were identified in 3%|
The research team evaluated 208 patients with familial or early-onset colorectal cancer.
The researchers identified haploinsufficiency or heterozygous mutations in the spindle assembly checkpoint genes BUB and BUB in 3% of patients.
Besides colorectal cancer, these patients had variegated aneuploidies in multiple tissues and variable dysmorphic features.
Dr de Voer's team concludes, "These results indicate that mutations in BUB1 and BUB3 cause mosaic variegated aneuploidy and increase the risk of colorectal cancer at a young age."