@article{d6bdf69e493f4628a2b077b1d698aa15,
title = "Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer",
abstract = "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.",
keywords = "Adult, Biomarkers, Tumor/genetics, Case-Control Studies, Cell Cycle Proteins/genetics, Colorectal Neoplasms/genetics, Genome-Wide Association Study, Germ-Line Mutation, Humans, Poly-ADP-Ribose Binding Proteins, Protein Serine-Threonine Kinases/genetics, Risk Factors",
author = "{de Voer}, {Richarda M} and {Geurts van Kessel}, Ad and Weren, {Robbert D A} and Ligtenberg, {Marjolijn J L} and Dominique Smeets and Lei Fu and Lilian Vreede and Kamping, {Eveline J} and Verwiel, {Eug{\`e}ne T P} and Marc-Manuel Hahn and Maayke Ariaans and Liesbeth Spruijt and {van Essen}, Ton and Gunnar Houge and Schackert, {Hans K} and Sheng, {Jian Q} and Hanka Venselaar and {van Ravenswaaij-Arts}, {Conny M A} and {van Krieken}, {J Han J M} and Nicoline Hoogerbrugge and Kuiper, {Roland P}",
note = "Copyright {\textcopyright} 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.",
year = "2013",
month = sep,
doi = "10.1053/j.gastro.2013.06.001",
language = "English",
volume = "145",
pages = "544--7",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W.B. Saunders",
number = "3",
}