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Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

  1. Author:
    Xu, X.
    Hou, Y.
    Yin, X. Y.
    Bao, L.
    Tang, A. F.
    Song, L. T.
    Li, F. Q.
    Tsang, S.
    Wu, K.
    Wu, H. J.
    He, W. M.
    Zeng, L.
    Xing, M. J.
    Wu, R. H.
    Jiang, H.
    Liu, X.
    Cao, D. D.
    Guo, G. W.
    Hu, X. D.
    Gui, Y. T.
    Li, Z. S.
    Xie, W. Y.
    Sun, X. J.
    Shi, M.
    Cai, Z. M.
    Wang, B.
    Zhong, M. M.
    Li, J. X.
    Lu, Z. H.
    Gu, N.
    Zhang, X. Q.
    Goodman, L.
    Bolund, L.
    Wang, J.
    Yang, H. M.
    Kristiansen, K.
    Dean, M.
    Li, Y. R.

  2. Author Address

    [Xu, Xun; Hou, Yong; Yin, Xuyang; Bao, Li; Song, Luting; Li, Fuqiang; Wu, Kui; Wu, Hanjie; He, Weiming; Zeng, Liang; Xing, Manjie; Wu, Renhua; Jiang, Hui; Liu, Xiao; Cao, Dandan; Guo, Guangwu; Hu, Xueda; Wang, Bin; Zhong, Meiming; Li, Jingxiang; Zhang, Xiuqing; Goodman, Laurie; Bolund, Lars; Wang, Jian; Yang, Huanming; Kristiansen, Karsten; Dean, Michael; Li, Yingrui; Wang, Jun] BGI Shenzhen, Shenzhen 518083, Peoples R China. [Xu, Xun] BGI Amer, Cambridge, MA 02142 USA. [Hou, Yong; Lu, Zuhong; Gu, Ning] Southeast Univ, Sch Biol Sci & Med Engn, Nanjing 210096, Jiangsu, Peoples R China. [Hou, Yong; Lu, Zuhong; Gu, Ning] Southeast Univ, State Key Lab Bioelect, Nanjing 210096, Jiangsu, Peoples R China. [Tang, Aifa; Li, Zesong; Sun, Xiaojuan; Cai, Zhiming] Shenzhen Second Peoples Hosp, Dept Urol, Shenzhen 518035, Peoples R China. [Tang, Aifa; Li, Zesong; Sun, Xiaojuan; Cai, Zhiming] Shenzhen Univ, Inst Urogenital Dis, Shenzhen 518060, Peoples R China. [Tsang, Shirley] BioMatrix LLC, Rockville, MD 20849 USA. [Wu, Hanjie] S China Univ Technol, Sch Biosci & Biotechnol, Guangzhou 510641, Guangdong, Peoples R China. [Xie, Wenyue; Shi, Min; Cai, Zhiming] Peking Univ, Shenzhen PKU HKUST Med Ctr, Inst Urol,Shenzhen Hosp, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen 518036, Peoples R China. [Bolund, Lars] Univ Aarhus, Inst Human Genet, DK-8100 Aarhus, Denmark. [Kristiansen, Karsten; Wang, Jun] Univ Copenhagen, Dept Biol, DK-1165 Copenhagen, Denmark. [Wang, Jun] Univ Copenhagen, Novo Nordisk Fdn Ctr Basic Metab Res, DK-1165 Copenhagen, Denmark. [Dean, Michael] NCI, Canc & Inflammat Program, NIH, Frederick, MD 21701 USA.;Wang, J (reprint author), BGI Shenzhen, Shenzhen 518083, Peoples R China;wangj@genomics.org.cn deanm@mail.nih.gov liyr@genomics.org.cn wangj@genomics.org.cn
    1. Year: 2012
    2. Date: Mar
  2. Journal: Cell
    1. 148
    2. 5
    3. Pages: 886-895
  4. Type of Article: Article
  5. ISSN: 0092-8674
  1. Abstract:

    Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer and has very few mutations that are shared between different patients. To better understand the intratumoral genetics underlying mutations of ccRCC, we carried out single-cell exome sequencing on a ccRCC tumor and its adjacent kidney tissue. Our data indicate that this tumor was unlikely to have resulted from mutations in VHL and PBRM1. Quantitative population genetic analysis indicates that the tumor did not contain any significant clonal subpopulations and also showed that mutations that had different allele frequencies within the population also had different mutation spectrums. Analyses of these data allowed us to delineate a detailed intratumoral genetic landscape at a single-cell level. Our pilot study demonstrates that ccRCC may be more genetically complex than previously thought and provides information that can lead to new ways to investigate individual tumors, with the aim of developing more effective cellular targeted therapies.

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External Sources

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  2. DOI: 10.1016/j.cell.2012.02.025
  3. View record in Web of Science®
  4. WOS: 000300985000010

Library Notes

  1. Fiscal Year: FY2011-2012
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