Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer

Richarda M de Voer; Ad Geurts van Kessel; Robbert D A Weren; Marjolijn J L Ligtenberg; Dominique Smeets; Lei Fu; Lilian Vreede; Eveline J Kamping; Eugène T P Verwiel; Marc-Manuel Hahn; Maayke Ariaans; Liesbeth Spruijt; Ton van Essen; Gunnar Houge; Hans K Schackert; Jian Q Sheng; Hanka Venselaar; Conny M A van Ravenswaaij-Arts; J Han J M van Krieken; Nicoline Hoogerbrugge; Roland P Kuiper

doi:10.1053/j.gastro.2013.06.001

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer

Richarda M de Voer, Ad Geurts van Kessel, Robbert D A Weren, Marjolijn J L Ligtenberg, Dominique Smeets, Lei Fu, Lilian Vreede, Eveline J Kamping, Eugène T P Verwiel, Marc-Manuel Hahn, Maayke Ariaans, Liesbeth Spruijt, Ton van Essen, Gunnar Houge, Hans K Schackert, Jian Q Sheng, Hanka Venselaar, Conny M A van Ravenswaaij-Arts, J Han J M van Krieken, Nicoline HoogerbruggeRoland P Kuiper

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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.

Originele taal-2	Engels
Pagina's (van-tot)	544-7
Aantal pagina's	4
Tijdschrift	Gastroenterology
Volume	145
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1053/j.gastro.2013.06.001
Status	Gepubliceerd - sep. 2013
Extern gepubliceerd	Ja

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10.1053/j.gastro.2013.06.001

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de Voer, R. M., Geurts van Kessel, A., Weren, R. D. A., Ligtenberg, M. J. L., Smeets, D., Fu, L., Vreede, L., Kamping, E. J., Verwiel, E. T. P., Hahn, M-M., Ariaans, M., Spruijt, L., van Essen, T., Houge, G., Schackert, H. K., Sheng, J. Q., Venselaar, H., van Ravenswaaij-Arts, C. M. A., van Krieken, J. H. J. M., ... Kuiper, R. P. (2013). Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology, 145(3), 544-7. https://doi.org/10.1053/j.gastro.2013.06.001

@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}",

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 Ltd",

number = "3",

}

de Voer, RM, Geurts van Kessel, A, Weren, RDA, Ligtenberg, MJL, Smeets, D, Fu, L, Vreede, L, Kamping, EJ, Verwiel, ETP, Hahn, M-M, Ariaans, M, Spruijt, L, van Essen, T, Houge, G, Schackert, HK, Sheng, JQ, Venselaar, H, van Ravenswaaij-Arts, CMA, van Krieken, JHJM, Hoogerbrugge, N & Kuiper, RP 2013, 'Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer', Gastroenterology, vol. 145, nr. 3, blz. 544-7. https://doi.org/10.1053/j.gastro.2013.06.001

TY - JOUR

T1 - Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer

AU - de Voer, Richarda M

AU - Geurts van Kessel, Ad

AU - Weren, Robbert D A

AU - Ligtenberg, Marjolijn J L

AU - Smeets, Dominique

AU - Fu, Lei

AU - Vreede, Lilian

AU - Kamping, Eveline J

AU - Verwiel, Eugène T P

AU - Hahn, Marc-Manuel

AU - Ariaans, Maayke

AU - Spruijt, Liesbeth

AU - van Essen, Ton

AU - Houge, Gunnar

AU - Schackert, Hans K

AU - Sheng, Jian Q

AU - Venselaar, Hanka

AU - van Ravenswaaij-Arts, Conny M A

AU - van Krieken, J Han J M

AU - Hoogerbrugge, Nicoline

AU - Kuiper, Roland P

PY - 2013/9

Y1 - 2013/9

N2 - 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.

AB - 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.

KW - Adult

KW - Biomarkers, Tumor/genetics

KW - Case-Control Studies

KW - Cell Cycle Proteins/genetics

KW - Colorectal Neoplasms/genetics

KW - Genome-Wide Association Study

KW - Germ-Line Mutation

KW - Humans

KW - Poly-ADP-Ribose Binding Proteins

KW - Protein Serine-Threonine Kinases/genetics

KW - Risk Factors

U2 - 10.1053/j.gastro.2013.06.001

DO - 10.1053/j.gastro.2013.06.001

M3 - Article

C2 - 23747338

SN - 0016-5085

VL - 145

SP - 544

EP - 547

JO - Gastroenterology

JF - Gastroenterology

IS - 3

ER -

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer

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