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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-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes I: Proto-oncogenes

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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

Cancer-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

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Updated: May 1, 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

Processed pseudogenes acquired somatically during cancer development.

Susanna L Cooke¹, Adam Shlien¹, John Marshall¹

¹Cancer Genome Project, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

Nature Communications

|April 10, 2014

Summary

This summary is machine-generated.

Cancer can develop new mutations through somatic retrotransposon reactivation, forming processed pseudogenes. This newly identified mutation class can impact tumor suppressor genes, potentially altering cancer development.

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Published on: January 9, 2020

Area of Science:

Genomics
Molecular Biology
Cancer Research

Background:

Cancer evolution involves somatic mutations, including retrotransposon reactivation.
Germline retrotransposition is known to cause processed pseudogenes.
The occurrence of somatic pseudogene formation during cancer development has not been previously evaluated.

Purpose of the Study:

To investigate the occurrence and characteristics of somatically acquired processed pseudogenes in cancer.
To determine the genomic features and transcriptional consequences of somatic pseudogene formation.
To identify specific cancer types where this phenomenon is prevalent.

Main Methods:

Screening of sequencing data from 660 cancer samples.
Analysis of genomic features of identified pseudogene insertion sites.
Assessment of transcriptional consequences, including gene expression changes.

Main Results:

Identified 42 somatic pseudogene events in 17 out of 660 cancer samples.
Found higher prevalence in non-small cell lung cancer (5/27) and colorectal cancer (2/11).
Observed genomic features similar to germline LINE element retrotranspositions (e.g., target-site duplications, polyA tails).
Documented pseudogene expression from UTRs/introns and abrogation of tumor suppressor gene MGA expression due to a somatic pseudogene insertion.

Conclusions:

Somatic processed pseudogene formation is a novel class of mutation in cancer development.
These pseudogenes exhibit characteristic genomic footprints and can lead to altered gene expression.
The integration of somatic pseudogenes can have significant functional consequences, including the inactivation of tumor suppressor genes.