Frequent truncating mutations of STAG2 in bladder cancer.

Frequent truncating mutations of STAG2 in bladder cancer.

Nature genetics (2013-10-15)

David A Solomon, Jung-Sik Kim, Jolanta Bondaruk, Shahrokh F Shariat, Zeng-Feng Wang, Abdel G Elkahloun, Tomoko Ozawa, Julia Gerard, Dazhong Zhuang, Shizhen Zhang, Neema Navai, Arlene Siefker-Radtke, Joanna J Phillips, Brian D Robinson, Mark A Rubin, Björn Volkmer, Richard Hautmann, Rainer Küfer, Pancras C W Hogendoorn, George Netto, Dan Theodorescu, C David James, Bogdan Czerniak, Markku Miettinen, Todd Waldman

PMID24121789

摘要

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.