Human Genetics

, Volume 135, Issue 6, pp 635–642 | Cite as

Deciphering intratumor heterogeneity using cancer genome analysis

  • Daeun Ryu
  • Je-Gun Joung
  • Nayoung K. D. Kim
  • Kyu-Tae Kim
  • Woong-Yang ParkEmail author
Part of the following topical collections:
  1. Exome Sequencing


Intratumor heterogeneity within individual cancer tissues underlies the numerous phenotypes of cancer. Tumor subclones ultimately affect therapeutic outcomes due to their distinct molecular features. Drug-resistant subclones are present at a low frequency in tissues at the time of biopsy, but can also arise as a result of acquired somatic mutations. A number of different approaches have been utilized to understand the nature of intratumor heterogeneity. Clonal analysis using whole exome or genome sequencing data can help monitor subclones in the context of tumor progression. Multiregional biopsies permit the molecular characterization of subclones within tumors. Deep sequencing has also provided researchers with the ability to measure the low allele fraction variant within a small number of cells. Ultimately, single-cell sequencing will enable the identification of every minor population within a tumor microenvironment. In the clinical context, the ability to identify and monitor the subclonal architecture of a tumor is valuable for the development of precise cancer therapeutic methods.


Tumor Heterogeneity Clonal Evolution Intratumor Heterogeneity Multiple Displacement Amplification Clonal Structure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This work was supported by Health Technology R&D Project, the Ministry of Health and Welfare (HI13C2096).

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Daeun Ryu
    • 1
    • 2
  • Je-Gun Joung
    • 1
  • Nayoung K. D. Kim
    • 1
  • Kyu-Tae Kim
    • 1
  • Woong-Yang Park
    • 1
    • 2
    • 3
    Email author
  1. 1.Samsung Genome Institute, Samsung Medical CenterSeoulKorea
  2. 2.Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and TechnologySungkyunkwan UniversitySeoulKorea
  3. 3.Department of Molecular Cell BiologySungkyunkwan University School of MedicineSeoulKorea

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