Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

13.5K
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...
13.5K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.7K
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...
8.7K
Adaptive Mechanisms in Cancer Cells02:53

Adaptive Mechanisms in Cancer Cells

6.2K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
6.2K
Epigenetic Regulation01:37

Epigenetic Regulation

3.4K
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.
X-chromosome...
3.4K
Epigenetic Regulation01:46

Epigenetic Regulation

32.5K
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
32.5K
Cancer02:18

Cancer

52.2K
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
52.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Recurrent ZC3H18 mutations stabilize oncogenic endogenous retroviral RNA.

Cell reports·2026
Same author

GWAS meta-analysis provides new insights into uveal melanoma risk.

British journal of cancer·2026
Same author

Disruption of CTCF binding by germline non-coding variants in <i>CDKN2B</i> suppress <i>CDKN2A</i> expression and predispose to melanoma.

medRxiv : the preprint server for health sciences·2026
Same author

Functional characterization of the 9q34.13 locus identifies <i>RAPGEF1</i> as modulating risk for melanoma and nevi via RAS activation.

bioRxiv : the preprint server for biology·2026
Same author

Identification of immune cell type-specific susceptibility genes in multiple cancers using transcriptome-wide association studies.

Journal of the National Cancer Institute·2026
Same author

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus.

medRxiv : the preprint server for health sciences·2026
Same journal

Temporal trajectories underlying adult neuronal diversity.

Current opinion in genetics & development·2026
Same journal

Transcription regulation of cell fate plasticity - from embryonic development to tissue regeneration.

Current opinion in genetics & development·2026
Same journal

Shared molecular and cellular programs during regeneration of glandular epithelia.

Current opinion in genetics & development·2026
Same journal

Lineage tracing in human cortical development.

Current opinion in genetics & development·2026
Same journal

Cis-regulatory strategies in developmental patterning.

Current opinion in genetics & development·2026
Same journal

GABAergic neuron fate specification and lineage allocation: from development to disorder.

Current opinion in genetics & development·2026
See all related articles

Related Experiment Video

Updated: Nov 22, 2025

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.1K

Cancer regulatory variation.

Rebecca C Hennessey1, Kevin M Brown1

  • 1Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Current Opinion in Genetics & Development
|January 10, 2021
PubMed
Summary
This summary is machine-generated.

Researchers are exploring non-coding genome regions for cancer driver genes, moving beyond protein-coding variants. The TERT promoter region highlights diverse mutations influencing carcinogenesis, necessitating integrated omics and functional studies.

More Related Videos

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.1K
Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
09:16

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on: September 1, 2019

7.8K

Related Experiment Videos

Last Updated: Nov 22, 2025

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.1K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.1K
Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
09:16

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on: September 1, 2019

7.8K

Area of Science:

  • Genomics
  • Cancer Biology
  • Epigenetics

Background:

  • Traditional cancer driver gene discovery focused on protein-coding regions, yielding diminishing returns.
  • Increasing whole genome sequencing data reveals the significance of non-coding genomic alterations in cancer.
  • The non-coding genome's regulatory role in carcinogenesis is a growing area of research.

Purpose of the Study:

  • To investigate the role of non-coding genomic variants in cancer development.
  • To characterize the mutational landscape of regulatory regions, such as the TERT promoter.
  • To emphasize the need for integrating diverse datasets to understand variant function.

Main Methods:

  • Analysis of whole genome sequencing data to identify recurrent mutations and structural variants.
  • Focus on specific 'hotspots' like the TERT promoter.
  • Integration of multi-omics data and functional assays.

Main Results:

  • Discovery of recurrent non-coding mutations and regulatory hotspots in cancer genomes.
  • The TERT promoter exemplifies diverse non-coding variant types (e.g., somatic mutations, enhancer hijacking, copy number alterations, transposable elements).
  • Identification of potential gene regulatory mechanisms driving carcinogenesis.

Conclusions:

  • Non-coding genomic regions harbor critical cancer driver mutations.
  • The TERT promoter serves as a model for understanding diverse non-coding alterations in cancer.
  • Integrated multi-omics and functional validation are essential for linking non-coding variants to functional effects and cancer progression.