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Related Concept Videos

Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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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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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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...
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Related Experiment Video

Updated: Feb 27, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
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Haploinsufficient tumor suppressor genes.

Kazushi Inoue1, Elizabeth A Fry1

  • 1The Department of Pathology, Wake Forest University Health Sciences, Medical Center Boulevard, Winston-Salem, NC 27157 USA.

Advances in Medicine and Biology
|July 7, 2017
PubMed
Summary

Haploinsufficiency of tumor suppressor genes (TSGs) means one missing gene copy impairs cell function, promoting cancer. This impacts various cancers and offers potential therapeutic targets.

Keywords:
AML1ARFDMP1 (DMTF1)EGR1TGFβ/TGFβR/SMAD4haploinsufficiencymouse modelp27Kip1p53tumor suppressor gene

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Haploinsufficiency occurs when one functional copy of a tumor suppressor gene (TSG) is insufficient for normal cellular function.
  • This phenomenon contributes to tumor development and is observed in well-known TSGs like p27 and PTEN, as well as newly identified ones.

Purpose of the Study:

  • To review the concept of haploinsufficiency in tumor suppressor genes.
  • To highlight examples and mechanisms of haploinsufficiency in various cancers.
  • To discuss the implications of haploinsufficiency for cancer therapy.

Main Methods:

  • Review of existing literature on tumor suppressor genes and haploinsufficiency.
  • Analysis of genetic alterations in human cancer syndromes (e.g., 5q-, 7q-, 8q-).
  • Examination of mouse models and human sample analyses for TSG function.

Main Results:

  • Haploinsufficiency accelerates tumor development, even with one wild-type allele present.
  • Compound haploinsufficiency involves multiple haploinsufficient TSGs, observed in chromosomal deletion syndromes.
  • Synergistic interactions between haploinsufficient TSGs and other oncogenic events drive specific cancers.

Conclusions:

  • Haploinsufficiency is a critical mechanism in tumorigenesis, affecting numerous TSGs.
  • Understanding haploinsufficiency provides insights into cancer development and progression.
  • The presence of a functional allele in haploinsufficient TSGs presents opportunities for targeted activation therapies.