Details

Autor(en) / Beteiligte

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

Titel

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

Link zum Volltext

Quelle

MEDLINE

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.