Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

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...

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Relative Risk

Relative Risk

Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

You might also read

Related Articles

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

Sort by

Same author

Long-term outcomes and late effects of surgery and radiotherapy in adult intracranial ependymoma patients.

Journal of neuro-oncology·2026

Same author

Evaluation of robust central nervous system treatment planning on a compact, gantry-less proton therapy system.

Physics in medicine and biology·2026

Same author

Phase 1 trial of pre-operative image guided intensity modulated photon radiotherapy with simultaneously integrated boost to the high-risk margin for patients with retroperitoneal sarcoma.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology·2026

Same author

Artificial intelligence analysis of temporalis muscle thickness for monitoring sarcopenia and clinical outcomes in individuals with paediatric brain tumours: a retrospective cohort study.

The Lancet. Digital health·2026

Same author

Association between radiographic response and subsequent recurrence in brain metastases treated with radiation: implications for response assessment criteria.

Neuro-oncology·2026

Same author

Clinicopathologic evaluation of dedifferentiated liposarcoma lacking MDM2 amplification.

Histopathology·2026

Search research articles

Related Experiment Video

Updated: Jan 31, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

Risk stratification by somatic mutation burden in Ewing sarcoma.

Kevin X Liu¹, Nayan Lamba², William L Hwang³

¹Department of Medicine, University of California San Diego School of Medicine, La Jolla, California.

|January 3, 2019

Summary

This summary is machine-generated.

Higher somatic mutation burden in localized Ewing sarcoma (ES) patients predicts worse outcomes. This finding may improve risk stratification and guide treatment decisions for high-risk individuals.

Keywords:

Ewing sarcoma OncoPanel somatic mutations somatic variants stromal antigen 2 (STAG2)tumor protein 53 (TP53)

More Related Videos

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

Related Experiment Videos

Last Updated: Jan 31, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

Area of Science:

Oncology
Genomics
Cancer Research

Background:

Localized Ewing sarcoma (ES) recurrence affects up to one-third of patients.
Current biomarkers lack accuracy in identifying high-risk ES patients.
Novel biomarkers are needed for improved risk stratification in localized ES.

Purpose of the Study:

To evaluate the utility of mutational burden in predicting outcomes for localized ES.
To determine if somatic mutation burden can identify high-risk localized ES patients.
To assess the correlation between mutation burden and overall survival (OS) and time to progression (TTP).

Main Methods:

Analysis of clinical and genomic data from 99 ES patients (63 with localized disease) via cBioPortal.
Somatic mutation counts were determined using cBioPortal mutation calling.
Patients were stratified into lower (≤11 mutations) and higher (>11 mutations) burden groups.

Main Results:

Higher mutational burden was significantly associated with inferior OS and TTP.
In localized ES, higher mutation burden was the sole predictor of inferior OS and TTP.
Mutations in STAG2 or TP53 correlated with higher mutational burden and shorter OS.

Conclusions:

Elevated somatic mutation burden in localized ES indicates poorer OS and TTP.
Somatic mutation burden can enhance risk stratification for localized ES patients.
Mutation burden may inform clinical decision-making for localized ES management.