西亚试剂：Whole-genome and whole-exome sequencing of bladder cancer i

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

Guangwu Guo,  Xiaojuan Sun,  Chao Chen,  Song Wu,  Peide Huang,  Zesong Li,  Michael Dean, Yi Huang,  Wenlong Jia,  Quan Zhou,  Aifa Tang,  Zuoquan Yang,  Xianxin Li,  Pengfei Song, Xiaokun Zhao,  Rui Ye,  Shiqiang Zhang,  Zhao Lin,  Mingfu Qi,  Shengqing Wan,  Liangfu Xie, Fan Fan,  Michael L Nickerson,  Xiangjun Zou,  Xueda Hu  et al.

Bladder cancer is one of the most common cancers worldwide, with transitional cell carcinoma (TCC) being the predominant form. Here we report a genomic analysis of TCC by both whole-genome and whole-exome sequencing of 99 individuals with TCC. Beyond confirming recurrent mutations in genes previously identified as being mutated in TCC, we identified additional altered genes and pathways that were implicated in TCC. Notably, we discovered frequent alterations in STAG2 and ESPL1, two genes involved in the sister chromatid cohesion and segregation (SCCS) process. Furthermore, we also detected a recurrent fusion involving FGFR3 and TACC3, another component of SCCS, by transcriptome sequencing of 42 DNA-sequenced tumors. Overall, 32 of the 99 tumors (32%) harbored genetic alterations in the SCCS process. Our analysis provides evidence that genetic alterations affecting the SCCS process may be involved in bladder tumorigenesis and identifies a new therapeutic possibility for bladder cancer.

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