Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor

Xu, Xun, Hou, Yong, Yin, Xuyang, Bao, Li, Tang, Aifa, Song, Luting, Li, Fuqiang, Tsang, Shirley, Wu, Kui, Wu, Hanjie, He, Weiming, Zeng, Liang, Xing, Manjie, Wu, Renhua, Jiang, Hui, Liu, Xiao, Cao, Dandan, Guo, Guangwu, Hu, Xueda, Gui, Yaoting, Li, Zesong, Xie, Wenyue, Sun, Xiaojuan, Shi, Min, Cai, Zhiming, Wang, Bin, Zhong, Meiming, Li, Jingxiang, Lu, Zuhong, Gu, Ning, Zhang, Xiuqing, Goodman, Laurie, Bolund, Lars, Wang, Jian, Yang, Huanming, Kristiansen, Karsten, Dean, Michael, Li, Yingrui and Wang, Jun (2012) Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell, 148 5: 886-895. doi:10.1016/j.cell.2012.02.025

Author Xu, Xun
Hou, Yong
Yin, Xuyang
Bao, Li
Tang, Aifa
Song, Luting
Li, Fuqiang
Tsang, Shirley
Wu, Kui
Wu, Hanjie
He, Weiming
Zeng, Liang
Xing, Manjie
Wu, Renhua
Jiang, Hui
Liu, Xiao
Cao, Dandan
Guo, Guangwu
Hu, Xueda
Gui, Yaoting
Li, Zesong
Xie, Wenyue
Sun, Xiaojuan
Shi, Min
Cai, Zhiming
Wang, Bin
Zhong, Meiming
Li, Jingxiang
Lu, Zuhong
Gu, Ning
Zhang, Xiuqing
Goodman, Laurie
Bolund, Lars
Wang, Jian
Yang, Huanming
Kristiansen, Karsten
Dean, Michael
Li, Yingrui
Wang, Jun
Title Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor
Journal name Cell   Check publisher's open access policy
ISSN 1097-4172
Publication date 2012-03-02
Year available 2012
Sub-type Article (original research)
DOI 10.1016/j.cell.2012.02.025
Open Access Status Not yet assessed
Volume 148
Issue 5
Start page 886
End page 895
Total pages 10
Place of publication Cambridge, MA, United States
Publisher Cell Press
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Chemistry and Molecular Biosciences
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