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Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
Ist Teil von
Gastroenterology (New York, N.Y. 1943), 2013-09, Vol.145 (3), p.544-547
Ort / Verlag
United States: Elsevier Inc
Erscheinungsjahr
2013
Quelle
Access via ScienceDirect (Elsevier)
Beschreibungen/Notizen
The spindle assembly checkpoint controls proper chromosome segregation during mitosis and prevents aneuploidy—an important feature of cancer cells. We performed genome-wide and targeted copy number and mutation analyses of germline DNA from 208 patients with familial or early-onset (40 years of age or younger) colorectal cancer; we identified haploinsufficiency or heterozygous mutations in the spindle assembly checkpoint genes BUB1 and BUB3 in 2.9% of them. Besides colorectal cancer, these patients had variegated aneuploidies in multiple tissues and variable dysmorphic features. These results indicate that mutations in BUB1 and BUB3 cause mosaic variegated aneuploidy and increase the risk of colorectal cancer at a young age.