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

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          SUMMARY

          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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          Author and article information

          Journal
          0413066
          2830
          Cell
          Cell
          Cell
          0092-8674
          1097-4172
          13 August 2020
          02 March 2012
          31 August 2020
          : 148
          : 5
          : 886-895
          Affiliations
          [1 ]BGI-Shenzhen, Shenzhen 518083, China
          [2 ]BGI-Americas, Cambridge, MA 02142, USA
          [3 ]School of Biological Science and Medical Engineering
          [4 ]State Key Laboratory of Bioelectronics Southeast University, Nanjing 210096, China
          [5 ]Department of Urology, Shenzhen Second People’s Hospital, Shenzhen 518035, China
          [6 ]The Institute of Urogenital Diseases, Shenzhen University, Shenzhen 518060, China
          [7 ]BioMatrix, LLC, Rockville, MD 20849, USA
          [8 ]School of Bioscience and Biotechnology, South China University of Technology, Guangzhou 510641, China
          [9 ]Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen 518036, China
          [10 ]Institute of Human Genetics, University of Aarhus, Aarhus 8100, Denmark
          [11 ]Department of Biology
          [12 ]The Novo Nordisk Foundation Center for Basic Metabolic Research University of Copenhagen, DK-1165 Copenhagen, Denmark
          [13 ]Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health (NIH), Frederick, MD 21701, USA
          Author notes
          [14]

          These authors contributed equally to this work

          Article
          PMC7458411 PMC7458411 7458411 nihpa1616661
          10.1016/j.cell.2012.02.025
          7458411
          22385958
          40f14c77-db9a-4b00-a2a2-710f3cee4d50
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