Literature DB >> 24121792

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

Guangwu Guo1, 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, Li Xing, Zhaojie Lv, Hongbin Mei, Shengjie Gao, Chaozhao Liang, Zhibo Gao, Jingxiao Lu, Yuan Yu, Chunxiao Liu, Lin Li, Xiaodong Fang, Zhimao Jiang, Jie Yang, Cailing Li, Xin Zhao, Jing Chen, Fang Zhang, Yongqi Lai, Zheguang Lin, Fangjian Zhou, Hao Chen, Hsiao Chang Chan, Shirley Tsang, Dan Theodorescu, Yingrui Li, Xiuqing Zhang, Jian Wang, Huanming Yang, Yaoting Gui, Jun Wang, Zhiming Cai.   

Abstract

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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Year:  2013        PMID: 24121792      PMCID: PMC7512009          DOI: 10.1038/ng.2798

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  39 in total

1.  Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.

Authors:  Thomas D Barber; Kirk McManus; Karen W Y Yuen; Marcelo Reis; Giovanni Parmigiani; Dong Shen; Irene Barrett; Yasaman Nouhi; Forrest Spencer; Sanford Markowitz; Victor E Velculescu; Kenneth W Kinzler; Bert Vogelstein; Christoph Lengauer; Philip Hieter
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-25       Impact factor: 11.205

2.  SOAP2: an improved ultrafast tool for short read alignment.

Authors:  Ruiqiang Li; Chang Yu; Yingrui Li; Tak-Wah Lam; Siu-Ming Yiu; Karsten Kristiansen; Jun Wang
Journal:  Bioinformatics       Date:  2009-06-03       Impact factor: 6.937

3.  Mapping and quantifying mammalian transcriptomes by RNA-Seq.

Authors:  Ali Mortazavi; Brian A Williams; Kenneth McCue; Lorian Schaeffer; Barbara Wold
Journal:  Nat Methods       Date:  2008-05-30       Impact factor: 28.547

4.  Mutation of the 9q34 gene TSC1 in sporadic bladder cancer.

Authors:  N Hornigold; J Devlin; A M Davies; J S Aveyard; T Habuchi; M A Knowles
Journal:  Oncogene       Date:  1999-04-22       Impact factor: 9.867

5.  Predicting Pol II promoter sequences using transcription factor binding sites.

Authors:  D S Prestridge
Journal:  J Mol Biol       Date:  1995-06-23       Impact factor: 5.469

6.  MethPrimer: designing primers for methylation PCRs.

Authors:  Long-Cheng Li; Rajvir Dahiya
Journal:  Bioinformatics       Date:  2002-11       Impact factor: 6.937

7.  FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma.

Authors:  Adel H Jebar; Carolyn D Hurst; Darren C Tomlinson; Colin Johnston; Claire F Taylor; Margaret A Knowles
Journal:  Oncogene       Date:  2005-08-04       Impact factor: 9.867

8.  Loss of heterozygosity at the RB locus is frequent and correlates with muscle invasion in bladder carcinoma.

Authors:  P Cairns; A J Proctor; M A Knowles
Journal:  Oncogene       Date:  1991-12       Impact factor: 9.867

Review 9.  Genetic alterations in urothelial bladder carcinoma: an updated review.

Authors:  Paulette Mhawech-Fauceglia; Richard T Cheney; Juerg Schwaller
Journal:  Cancer       Date:  2006-03-15       Impact factor: 6.860

10.  Oncogenic FGFR3 gene fusions in bladder cancer.

Authors:  Sarah V Williams; Carolyn D Hurst; Margaret A Knowles
Journal:  Hum Mol Genet       Date:  2012-11-21       Impact factor: 6.150

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  209 in total

1.  CD4+ T cells induce rejection of urothelial tumors after immune checkpoint blockade.

Authors:  Yuji Sato; Jennifer K Bolzenius; Abdallah M Eteleeb; Xinming Su; Christopher A Maher; Jennifer K Sehn; Vivek K Arora
Journal:  JCI Insight       Date:  2018-12-06

Review 2.  Targeting Signaling Transduction Pathways in Bladder Cancer.

Authors:  Phillip H Abbosh; David J McConkey; Elizabeth R Plimack
Journal:  Curr Oncol Rep       Date:  2015-12       Impact factor: 5.075

3.  Genomic Characterization of Upper Tract Urothelial Carcinoma.

Authors:  John P Sfakianos; Eugene K Cha; Gopa Iyer; Sasinya N Scott; Emily C Zabor; Ronak H Shah; Qinghu Ren; Aditya Bagrodia; Philip H Kim; A Ari Hakimi; Irina Ostrovnaya; Ricardo Ramirez; Aphrothiti J Hanrahan; Neil B Desai; Arony Sun; Patrizia Pinciroli; Jonathan E Rosenberg; Guido Dalbagni; Nikolaus Schultz; Dean F Bajorin; Victor E Reuter; Michael F Berger; Bernard H Bochner; Hikmat A Al-Ahmadie; David B Solit; Jonathan A Coleman
Journal:  Eur Urol       Date:  2015-08-14       Impact factor: 20.096

Review 4.  Molecular biology of bladder cancer.

Authors:  William Martin-Doyle; David J Kwiatkowski
Journal:  Hematol Oncol Clin North Am       Date:  2015-01-31       Impact factor: 3.722

Review 5.  Molecular Characterization of Bladder Cancer.

Authors:  Thenappan Chandrasekar; Annette Erlich; Alexandre R Zlotta
Journal:  Curr Urol Rep       Date:  2018-11-03       Impact factor: 3.092

6.  Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis.

Authors:  Stephan W Jahn; Karl Kashofer; Iris Halbwedl; Gerlinde Winter; Laila El-Shabrawi-Caelen; Thomas Mentzel; Gerald Hoefler; Bernadette Liegl-Atzwanger
Journal:  Mod Pathol       Date:  2015-03-13       Impact factor: 7.842

7.  Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease.

Authors:  Christine Spiegelberg; Johannes Giedl; Nadine T Gaisa; Anja Rogler; Marc-Oliver Riener; Thomas Filbeck; Maximilian Burger; Petra Ruemmele; Arndt Hartmann; Robert Stoehr
Journal:  Int J Clin Exp Pathol       Date:  2014-03-15

8.  Homologous Mutation to Human BRAF V600E Is Common in Naturally Occurring Canine Bladder Cancer--Evidence for a Relevant Model System and Urine-Based Diagnostic Test.

Authors:  Brennan Decker; Heidi G Parker; Deepika Dhawan; Erika M Kwon; Eric Karlins; Brian W Davis; José A Ramos-Vara; Patty L Bonney; Elizabeth A McNiel; Deborah W Knapp; Elaine A Ostrander
Journal:  Mol Cancer Res       Date:  2015-03-12       Impact factor: 5.852

Review 9.  Domestic dogs and cancer research: a breed-based genomics approach.

Authors:  Brian W Davis; Elaine A Ostrander
Journal:  ILAR J       Date:  2014

10.  A randomized phase 2 trial of gemcitabine/cisplatin with or without cetuximab in patients with advanced urothelial carcinoma.

Authors:  Maha Hussain; Stephanie Daignault; Neeraj Agarwal; Petros D Grivas; Arlene O Siefker-Radtke; Igor Puzanov; Gary R MacVicar; Ellis Glenn Levine; Sandy Srinivas; Przemyslaw Twardowski; Mario A Eisenberger; David I Quinn; Ulka N Vaishampayan; Evan Y Yu; Scott Dawsey; Kathleen C Day; Mark L Day; Mahmoud Al-Hawary; David C Smith
Journal:  Cancer       Date:  2014-05-06       Impact factor: 6.860

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