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

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 BUB3 in 456...

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Publicat a:Mol Cancer
Autors principals: Mur, Pilar, De Voer, Richarda M., Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J. P. L., Urioste, Miguel, Puente, Xose S., Capellá, Gabriel, Valle, Laura
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5815240/
https://ncbi.nlm.nih.gov/pubmed/29448935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12943-018-0762-8
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