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

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.0K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.0K
Mutations01:39

Mutations

79.5K
Overview
79.5K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.5K
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...
11.5K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.3K
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...
7.3K
Alternative RNA Splicing02:18

Alternative RNA Splicing

20.9K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
20.9K

You might also read

Related Articles

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

Sort by
Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

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

A Clinically Integrated Pediatric Patient-Derived Xenograft Program Enables Evaluation of Cohort and Patient-Specific Biology and Therapeutic Strategies.

Cancer research·2026
Same author

Simulation and empirical evaluation of biologically-informed neural network performance.

Machine learning with applications·2026
Same author

Spatially resolved T cell receptor tracking reveals γδT cell localization to tumor-rich regions in high-risk neuroblastoma: A Report from the Children's Oncology Group.

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

Evaluating agentic AI for biological discovery in autonomous and copilot settings.

bioRxiv : the preprint server for biology·2026
Same author

Combined inhibition of CDK4/6 and PI3K pathways exhibit highly synergistic activity and translational potential in Ewing sarcoma.

Translational oncology·2026
Same journal

Erratum for the Research Article "Detecting supramolecular organic nanoparticles during heat wave".

Science (New York, N.Y.)·2026
Same journal

Local signals, systemic decline.

Science (New York, N.Y.)·2026
Same journal

The mechanics of liver regeneration.

Science (New York, N.Y.)·2026
Same journal

Computing in a memory with physics.

Science (New York, N.Y.)·2026
Same journal

Retraction.

Science (New York, N.Y.)·2026
Same journal

Making time.

Science (New York, N.Y.)·2026
See all related articles

Related Experiment Video

Updated: Jun 4, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.3K

Rare germline structural variants increase risk for pediatric solid tumors.

Riaz Gillani1,2,3,4, Ryan L Collins2,3,5, Jett Crowdis3

  • 1Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

Science (New York, N.Y.)
|January 2, 2025
PubMed
Summary
This summary is machine-generated.

Rare germline structural variants (SVs) increase pediatric cancer risk, particularly in males with large chromosomal abnormalities. These genetic factors contribute significantly to childhood cancer predisposition.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

Related Experiment Videos

Last Updated: Jun 4, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.3K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

Area of Science:

  • Genetics
  • Pediatric Oncology
  • Cancer Genomics

Background:

  • Pediatric solid tumors are a major cause of mortality in children.
  • Germline structural variants (SVs) are increasingly recognized as potential contributors to cancer predisposition.

Purpose of the Study:

  • To investigate the role of germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors.
  • To identify specific types of SVs associated with increased cancer risk in children.

Main Methods:

  • Genome sequencing of 1765 children with solid tumors, 943 parents, and 6665 adult controls.
  • Analysis of germline structural variants, focusing on large chromosomal abnormalities and their impact on gene function and regulation.

Main Results:

  • A sex-biased association was found between large germline SVs (>1 megabase) and increased solid tumor risk in male children.
  • Neuroblastoma showed the greatest impact, with ultrarare SVs leading to loss of function in critical genes and disruption of chromatin domains.
  • Rare germline SVs are estimated to account for 1.1–5.6% of pediatric cancer liability.

Conclusions:

  • Germline structural variants represent an important, yet often overlooked, component of pediatric cancer predisposition.
  • Understanding these genetic factors can inform risk assessment and potentially lead to novel therapeutic strategies for childhood cancers.