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Updated: May 29, 2026
11:02
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Remarkable difference of somatic mutation patterns between oncogenes and tumor suppressor genes
Haoxuan Liu1, Yuhang Xing, Sihai Yang
1State Key Laboratory of Pharmaceutical Biotechnology, Department of Biology, Nanjing University, Nanjing, PR China.
Oncology Reports
|September 3, 2011
Summary
Researchers identified distinct mutation patterns in tumor suppressor and oncogenes. They developed indices to classify genes, discovering a third group with intermediate patterns, aiding cancer gene function understanding and identifying therapeutic targets.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- Cancers develop from mutations in tumor suppressor genes and oncogenes.
- Distinguishing these gene types by mutation patterns is key for understanding oncogenesis and cancer diagnosis.
Purpose of the Study:
- To analyze mutation patterns in known tumor suppressor genes and oncogenes.
- To develop methods for discriminating between tumor suppressors and oncogenes.
- To identify potential novel cancer-related genes and therapeutic targets.
Main Methods:
- Analysis of over 120,000 mutation samples from the COSMIC database.
- Comparison of mutation patterns, including non-3n-indels, non-sense SNPs, and mutation hotspots.
- Development of indices to classify genes based on mutation profiles.
Main Results:
- Significant differences in mutation patterns were found between tumor suppressor genes and oncogenes.
- Developed indices effectively distinguish between tumor suppressors and oncogenes, enabling prediction of unknown genes.
- Identified a third gene group with intermediate mutation patterns, offering new insights into gene function in oncogenesis.
Conclusions:
- Mutation pattern analysis provides a robust method for classifying cancer-related genes.
- The identified third gene group expands our understanding of gene roles in cancer.
- The study highlights potential therapeutic targets and aids in understanding gene function across diverse cancers and patients.
Related Concept Videos
01:05Cancer-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...
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...
01:05Cancer-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...
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...
01:12Loss of Tumor Suppressor Gene Functions
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When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:12Loss of Tumor Suppressor Gene Functions
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When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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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...
02:21Cancers 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...