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

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

11.0K
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...
11.0K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.4K
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...
14.4K
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

7.1K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
7.1K
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

5.2K
Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
5.2K
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.5K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
6.5K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.7K
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...
5.7K

You might also read

Related Articles

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

Sort by
Same author

Integrated Clinicogenomic Risk Modeling for Metachronous Second Primary Cancers.

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

Molecular and Clinical Determinants of Targeted Therapy Treatment in Biliary Tract Cancer.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026
Same author

The Genomic Landscape of MYC, MYCL, and MYCN Amplified Solid Tumors.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026
Same author

Deconvolving SARS-CoV-2 mRNA vaccine impact on immunotherapy-related survival.

Cancer discovery·2026
Same author

Impact of somatic PIK3CA mutations on clinical outcomes in HER2-positive breast cancer.

Breast cancer research : BCR·2026
Same journal

Daily briefing: How cooperation built the world.

Nature·2026
Same journal

Deep-sea oddities and boatloads of other new species - June's best science images.

Nature·2026
Same journal

From cloning to gene-editing: the enduring legacy of Dolly the sheep.

Nature·2026
Same journal

Time to give hydration breaks the red card? What science says about keeping cool.

Nature·2026
Same journal

Universities are relying on AI-detection software to catch cheating. How well do the programs work?

Nature·2026
Same journal

Daily briefing: 'Cyborg' cockroaches breathe underwater with printed suit.

Nature·2026
See all related articles

Related Experiment Video

Updated: Dec 20, 2025

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

3.0K

Phase and context shape the function of composite oncogenic mutations.

Alexander N Gorelick1,2, Francisco J Sánchez-Rivera3, Yanyan Cai4

  • 1Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Nature
|May 29, 2020
PubMed
Summary
This summary is machine-generated.

Nearly a quarter of human tumors harbor composite mutations, defined as multiple mutations within a single cancer gene. These complex genetic alterations arise from specific evolutionary pressures and influence cancer development and treatment strategies.

More Related Videos

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

7.7K
Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

9.9K

Related Experiment Videos

Last Updated: Dec 20, 2025

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

3.0K
Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

7.7K
Yeast As a Chassis for Developing Functional Assays to Study Human P53
14:57

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

9.9K

Area of Science:

  • Oncology
  • Cancer Genomics
  • Molecular Biology

Background:

  • Cancers arise from driver mutations leading to disease evolution.
  • Understanding the serial genetic evolution and allelic context of cancer genes is crucial.
  • Current research lacks comprehensive understanding of composite mutations in cancer.

Purpose of the Study:

  • To investigate the prevalence and characteristics of composite mutations in human tumors.
  • To explore the evolutionary dynamics and selective pressures shaping composite mutations.
  • To elucidate the functional and therapeutic implications of composite mutations.

Main Methods:

  • Analysis of somatic mutations across a large cohort of human tumors.
  • Identification and classification of composite mutations within cancer-associated genes.
  • Functional assessment of composite mutations in relation to gene dosage and selective pressures.

Main Results:

  • Approximately 25% of human tumors exhibit composite mutations in cancer-associated genes.
  • Composite mutations are enriched in specific genes and involve less common hotspot mutations.
  • These mutations arise through a chronological process influenced by oncogenic fitness and selective pressures.
  • cis-acting composite mutations demonstrate gene- and allele-specific functional outcomes, including hypermorphic activity and selection for function.

Conclusions:

  • Composite mutations represent significant driver alterations in cancer development.
  • Their formation is driven by context- and allele-specific selective pressures.
  • These complex mutations can lead to neomorphic functions with potential biological and therapeutic importance.