Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor
By Xun Xu, Yong Hou, Xuyang Yin, Li Bao, A. Tang, Luting Song, Fuqiang Li, S. Tsang, Kui Wu, Hanjie Wu and 29 more. Cell, 2012
666 citations recorded by the source corpus.
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.
Subfields: Cancer Research, Molecular Biology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/607cdf749f4f52fb31a1026f54a5b09c24ec2984
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Citations in the corpus
- Genome-Wide Detection of Single Nucleotide and Copy Number Variations of a Single Human Cell (2012, background): “Attempts have been made recently to identify SNVs from a single cell by MDA (15, 16, 23).”
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