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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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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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Cancer-Critical Genes I: Proto-oncogenes01:33

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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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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.
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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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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Related Experiment Video

Updated: Oct 3, 2025

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
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PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

Mary Helen Black1, Shuwei Li1, Tina Pesaran1

  • 1Mary Helen Black, Shuwei Li, Tina Pesaran, Holly LaDuca, Rachid Karam, Jacob Clifford, and Brandon Smith, Ambry Genetics, Aliso Viejo, CA; and Robert Pilarski, The Ohio State University, Columbus, OH.

JCO Precision Oncology
|February 17, 2022
PubMed
Summary
This summary is machine-generated.

PTEN promoter variants do not increase cancer risk. PTEN mutations are linked to certain cancers, but promoter variants lack association, suggesting they shouldn't be included in multigene panel testing.

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Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • PTEN mutations are established drivers in various cancers, including breast, colon, endometrial, kidney, and thyroid.
  • However, most PTEN promoter alterations are classified as variants of unknown significance (VUS), leaving their role in cancer etiology unclear.

Purpose of the Study:

  • To investigate the association between PTEN promoter variants and cancer risk.
  • To determine if PTEN promoter sequencing should be incorporated into multigene panel testing (MGPT).

Main Methods:

  • Retrospective review of personal and family histories from 88,333 patients who underwent PTEN analysis via MGPT.
  • Comparison of cancer incidence between individuals with pathogenic PTEN mutations (PATHO), PTEN promoter variants (PROM), and wild-type (WT) PTEN.
  • Multivariable logistic regression adjusted for demographic and clinical factors.

Main Results:

  • Pathogenic PTEN mutations (PATHO) were significantly associated with increased odds of breast (OR=2.30) and uterine/endometrial cancers (OR=7.56).
  • PTEN promoter variants (PROM) showed no significant association with any cancer type compared to wild-type (WT) individuals (all P > .05).

Conclusions:

  • PTEN promoter variants are not associated with an increased risk of cancer.
  • The findings do not support the routine inclusion of PTEN promoter sequencing within MGPT for cancer risk assessment.