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Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

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...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

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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Related Experiment Video

Updated: Jun 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Analyzing somatic mutations by single-cell whole-genome sequencing.

Lei Zhang^1,2, Moonsook Lee³, Alexander Y Maslov^3,4

¹Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN, USA. zhan8273@umn.edu.

Nature Protocols

|November 23, 2023

Summary

This summary is machine-generated.

This study introduces a new protocol for single-cell whole-genome sequencing to discover and analyze somatic mutations. This method accurately identifies genetic variations in individual cells, crucial for understanding diseases like cancer.

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Last Updated: Jun 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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Published on: October 18, 2013

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Somatic mutations drive cancer, noncancerous diseases, and aging.
Most somatic mutations are cell-specific, challenging bulk DNA sequencing.
Understanding individual cell mutations is key to disease research.

Purpose of the Study:

To present a detailed protocol for single-cell whole-genome sequencing.
To enable discovery and analysis of somatic mutations in individual cells.
To provide a comprehensive method for studying genome mosaicism.

Main Methods:

Single-cell multiple displacement amplification (SCMDA) for efficient and high-fidelity DNA amplification.
SCcaller software tool for accurate calling of single-nucleotide variations and small insertions/deletions.
Integrated protocol covering cell isolation, whole-genome amplification, library preparation, sequencing, and computational analysis.

Main Results:

The protocol achieves high genomic coverage and accuracy in variant calling from single cells.
It effectively filters out amplification artifacts using SCMDA and SCcaller.
Offers a streamlined procedure with fewer steps compared to alternative methods.

Conclusions:

This protocol provides a robust method for comprehensive somatic mutation analysis at the single-cell level.
It is applicable to diverse human and animal tissues for studying mutagenesis and genome mosaicism.
Facilitates research into the role of somatic mutations in health and disease.