Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
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SourceGastroenterology, 145, 3, (2013), pp. 544-547
Article / Letter to editor
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SubjectNCMLS 6: Genetics and epigenetic pathways of disease; NCMLS 6: Genetics and epigenetic pathways of disease ONCOL 3: Translational research; NCMLS 7: Chemical and physical biology; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 1: Hereditary cancer and cancer-related syndromes NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 3: Translational research NCMLS 3: Tissue engineering and pathology; ONCOL 3: Translational research NCMLS 3: Tissue engineering and pathology
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.
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