Frequent truncating mutations of STAG2 in bladder cancer.

TitleFrequent truncating mutations of STAG2 in bladder cancer.
Publication TypeJournal Article
Year of Publication2013
AuthorsSolomon DA, Kim J-S, Bondaruk J, Shariat SF, Wang Z-F, Elkahloun AG, Ozawa T, Gerard J, Zhuang D, Zhang S, Navai N, Siefker-Radtke A, Phillips JJ, Robinson BD, Rubin MA, Volkmer B, Hautmann R, Küfer R, Hogendoorn PCW, Netto G, Theodorescu D, C James D, Czerniak B, Miettinen M, Waldman T
JournalNat Genet
Volume45
Issue12
Pagination1428-30
Date Published2013 Dec
ISSN1546-1718
KeywordsAnimals, Antigens, Nuclear, Cell Cycle Proteins, Cell Line, Tumor, Codon, Nonsense, Female, Gene Frequency, Humans, Mice, Mice, Inbred BALB C, Mice, Nude, Neoplasm Invasiveness, Urinary Bladder Neoplasms, Urothelium
Abstract

Here we report the discovery of truncating mutations of the gene encoding the cohesin subunit STAG2, which regulates sister chromatid cohesion and segregation, in 36% of papillary non-invasive urothelial carcinomas and 16% of invasive urothelial carcinomas of the bladder. Our studies suggest that STAG2 has a role in controlling chromosome number but not the proliferation of bladder cancer cells. These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer.

DOI10.1038/ng.2800
Alternate JournalNat Genet
PubMed ID24121789
Grant ListR21CA143282 / CA / NCI NIH HHS / United States
/ ImNIH / Intramural NIH HHS / United States
P50CA091846 / CA / NCI NIH HHS / United States
R01CA169345 / CA / NCI NIH HHS / United States
R01CA159467 / CA / NCI NIH HHS / United States
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Brian Robinson, M.D.

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