Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Abstract Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB...

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Hlavní autoři:	Pilar Mur, Richarda M. De Voer, Rubén Olivera-Salguero, Sandra Rodríguez-Perales, Tirso Pons, Fernando Setién, Gemma Aiza, Rafael Valdés-Mas, Angelo Bertini, Marta Pineda, Lilian Vreede, Matilde Navarro, Silvia Iglesias, Sara González, Joan Brunet, Alfonso Valencia, Manel Esteller, Conxi Lázaro, Geert J. P. L. Kops, Miguel Urioste, Xose S. Puente, Gabriel Capellá, Laura Valle
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2018-02-01
Edice:	Molecular Cancer
Témata:	Colorectal cancer predisposition Hereditary colorectal cancer High-penetrance genes Variegated aneuploidy Mechanism
On-line přístup:	http://link.springer.com/article/10.1186/s12943-018-0762-8
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