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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Related Experiment Video

Updated: Dec 5, 2025

Target Cell Pre-enrichment and Whole Genome Amplification for Single Cell Downstream Characterization
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Genomic Instability in Circulating Tumor Cells.

Monique Oliveira Freitas1,2,3, John Gartner4, Aline Rangel-Pozzo1

  • 1Cell Biology, Research Institute of Oncology and Hematology, University of Manitoba, Cancer Care Manitoba, Winnipeg, MB R3C 2B7, Canada.

Cancers
|October 21, 2020
PubMed
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Circulating tumor cells (CTCs) offer insights into cancer metastasis. Analyzing CTC genetic heterogeneity and instability aids in understanding tumor evolution and improving cancer diagnosis and precision medicine.

Keywords:
chromosome instabilitycirculating tumor cells (CTCs)tumor heterogeneity

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Adaptation of Semiautomated Circulating Tumor Cell CTC Assays for Clinical and Preclinical Research Applications
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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Circulating tumor cells (CTCs) are key drivers of distant metastases.
  • CTCs are accessible via minimally invasive liquid biopsy for cancer patient assessment.
  • Genomic heterogeneity and instability are hallmarks of CTCs.

Purpose of the Study:

  • To review advances in detecting and quantifying tumor cell heterogeneity and genomic instability in CTCs.
  • To highlight the role of chromosome instability in CTC genetic heterogeneity.
  • To discuss the impact of CTC genetic analysis on cancer diagnosis and precision medicine.

Main Methods:

  • Review of recent literature on CTC detection and characterization.
  • Focus on single-CTC level analysis of chromosome instability.
  • Discussion of data across various cancer subtypes.

Main Results:

  • Genetic characterization of CTCs provides insights into tumor initiation and progression.
  • Chromosome instability contributes significantly to genetic heterogeneity in CTCs.
  • Single-CTC analysis reveals detailed molecular changes.

Conclusions:

  • CTC genetic profiling is a powerful tool for understanding cancer.
  • Advances in CTC analysis impact cancer diagnosis and precision medicine.
  • Further research into CTC heterogeneity and instability is crucial.