Related Experiment Video
Updated: Dec 15, 2025
11:02
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
19.8K
Somatic copy number profiling from hepatocellular carcinoma circulating tumor cells
Colin M Court1,2,3, Shuang Hou1, Lian Liu4
1Department of Surgery, University of California, Los Angeles, Los Angeles, CA USA.
NPJ Precision Oncology
|July 9, 2020
Summary
Somatic copy number alterations (SCNAs) in circulating tumor cells (CTCs) offer a promising liquid biopsy for liver cancer. SCNA profiling of CTCs showed high concordance with primary tumors and aided in identifying cancer origins.
Area of Science:
- Genomics
- Oncology
- Molecular Diagnostics
Background:
- Somatic copy number alterations (SCNAs) are key drivers in cancer development.
- Liquid biopsies using circulating tumor cells (CTCs) offer a minimally invasive approach for cancer molecular profiling.
Purpose of the Study:
- To assess the feasibility of SCNA profiling from CTCs for hepatocellular carcinoma (HCC) liquid biopsies.
- To develop and evaluate a model for cancer origin classification based on SCNA profiles.
Main Methods:
- Whole-genome sequencing of CTCs from HCC patients to detect SCNAs.
- Development of a cancer origin classification model using TCGA SCNA data.
- Evaluation of SCNA concordance between CTCs and primary tumors.
Main Results:
- Frequent SCNAs, including 8q amplifications and 17p deletions, were identified in HCC-derived CTCs.
- CTCs exhibited an 80% median concordance in SCNA profiles with their primary tumors.
- The SCNA classification model correctly identified the tissue of origin in 73% of CTC samples across various cancer types.
Conclusions:
- SCNA profiling of CTCs is a feasible molecular liquid biopsy for HCC.
- CTCs can reveal SCNAs not present in the primary tumor, some with prognostic significance.
- SCNA-based models show potential for identifying cancer origins from liquid biopsies.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
18.4K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.4K
02:21Cancers Originate from Somatic Mutations in a Single Cell
14.4K
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...
14.4K