@article{3159633,
    title = "Recurrent inactivation of STAG2 in bladder cancer is not associated with
aneuploidy",
    author = "Balbas-Martinez, Cristina and Sagrera, Ana and Carrillo-de-Santa-Pau, and Enrique and Earl, Julie and Marquez, Mirari and Vazquez, Miguel and and Lapi, Eleonora and Castro-Giner, Francesc and Beltran, Sergi and Bayes, and Monica and Carrato, Alfredo and Cigudosa, Juan C. and Dominguez, Orlando and and Gut, Marta and Herranz, Jesus and Juanpere, Nuria and Kogevinas, and Manolis and Langa, Xavier and Lopez-Knowles, Elena and Lorente, Jose A. and and Lloreta, Josep and Pisano, David G. and Richart, Laia and Rico, and Daniel and Salgado, Rocio N. and Tardon, Adonina and Chanock, Stephen and and Heath, Simon and Valencia, Alfonso and Losada, Ana and Gut, Ivo and and Malats, Nuria and Real, Francisco X.",
    journal = "Nature Genetics",
    year = "2013",
    volume = "45",
    number = "12",
    pages = "1464-U221",
    publisher = "Nature Publishing Group",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/ng.2799",
    abstract = "Urothelial bladder cancer (UBC) is heterogeneous at the clinical,
pathological and genetic levels. Tumor invasiveness (T) and grade (G)
are the main factors associated with outcome and determine patient
management(1). A discovery exome sequencing screen (n = 17), followed by
a prevalence screen (n = 60), identified new genes mutated in this tumor
coding for proteins involved in chromatin modification (MLL2, ASXL2 and
BPTF), cell division (STAG2, SMC1A and SMC1B) and DNA repair (ATM, ERCC2
and FANCA). STAG2, a subunit of cohesin, was significantly and commonly
mutated or lost in UBC, mainly in tumors of low stage or grade, and its
loss was associated with improved outcome. Loss of expression was often
observed in chromosomally stable tumors, and STAG2 knockdown in bladder
cancer cells did not increase aneuploidy. STAG2 reintroduction in
non-expressing cells led to reduced colony formation. Our findings
indicate that STAG2 is a new UBC tumor suppressor acting through
mechanisms that are different from its role in preventing aneuploidy."
}