Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

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

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
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

Video Experimental Relacionado

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

La fase y el contexto determinan la función de las mutaciones oncogénicas compuestas

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
Resumen

Casi una cuarta parte de los tumores humanos albergan mutaciones compuestas, definidas como múltiples mutaciones dentro de un solo gen de cáncer. Estas complejas alteraciones genéticas surgen de presiones evolutivas específicas e influyen en el desarrollo del cáncer y las estrategias de tratamiento.

Más Videos Relacionados

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

Videos de Experimentos Relacionados

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

Área de la Ciencia:

  • En el campo de la oncología
  • Genómica del cáncer
  • Biología molecular

Sus antecedentes:

  • Los cánceres surgen de mutaciones conductoras que conducen a la evolución de la enfermedad.
  • Comprender la evolución genética en serie y el contexto alélico de los genes del cáncer es crucial.
  • La investigación actual carece de una comprensión completa de las mutaciones compuestas en el cáncer.

Objetivo del estudio:

  • Investigar la prevalencia y las características de las mutaciones compuestas en tumores humanos.
  • Explorar la dinámica evolutiva y las presiones selectivas que dan forma a las mutaciones compuestas.
  • Para aclarar las implicaciones funcionales y terapéuticas de las mutaciones compuestas.

Principales métodos:

  • Análisis de mutaciones somáticas en una gran cohorte de tumores humanos.
  • Identificación y clasificación de mutaciones compuestas dentro de genes asociados con el cáncer.
  • Evaluación funcional de las mutaciones compuestas en relación con la dosificación genética y las presiones selectivas.

Principales resultados:

  • Aproximadamente el 25% de los tumores humanos presentan mutaciones compuestas en genes asociados con el cáncer.
  • Las mutaciones compuestas están enriquecidas en genes específicos e implican mutaciones de puntos calientes menos comunes.
  • Estas mutaciones surgen a través de un proceso cronológico influenciado por la aptitud oncogénica y las presiones selectivas.
  • Las mutaciones compuestas de acción cis demuestran resultados funcionales específicos de genes y alelos, incluida la actividad hipermórfica y la selección para la función.

Conclusiones:

  • Las mutaciones compuestas representan alteraciones significativas en el desarrollo del cáncer.
  • Su formación es impulsada por presiones selectivas específicas del contexto y del alelo.
  • Estas mutaciones complejas pueden conducir a funciones neomorfas con potencial importancia biológica y terapéutica.