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

Mutations01:39

Mutations

94.5K
Overview
94.5K
Mutations01:35

Mutations

44.5K
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...
44.5K
Viral Mutations00:36

Viral Mutations

39.9K
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...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.1K
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).
64.1K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.9K
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...
14.9K
Mutations in Microorganisms01:18

Mutations in Microorganisms

718
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
718

You might also read

Related Articles

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

Sort by
Same author

Incidental Thyroglossal Duct Cyst Papillary Thyroid Carcinoma: A Scoping Review.

ANZ journal of surgery·2026
Same author

Integrating computational evaluation and mechanical testing to optimize laser-sintered polyether ketone scaffolds for mandibular reconstruction in large animal models.

Journal of the mechanical behavior of biomedical materials·2026
Same author

The Impact of Margin Status Following Surgery for Metastatic Cutaneous Squamous Cell Carcinoma to the Parotid Gland.

Head & neck·2026
Same author

A Randomised Controlled Trial Comparing Spray Versus Paint Application of Iodine Skin Antisepsis in Head and Neck Surgery.

ANZ journal of surgery·2026
Same author

Integrating Immunotherapy Into Head and Neck Surgery: Bridging Tumor Biology to Perioperative Decision-Making, a Review.

Head & neck·2026
Same author

Superior Labial Artery Mucosal Flap (SLAM) for Reconstruction of Major Lower Lip Mucosal Defects.

Head & neck·2026

Related Experiment Video

Updated: Jan 30, 2026

Development of Compendium for Esophageal Squamous Cell Carcinoma
03:36

Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

831

Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma.

Simon A Mueller1, Marie-Emilie A Gauthier2, Bruce Ashford3

  • 1Sydney Head and Neck Cancer Institute, Chris O'Brien Lifehouse, Sydney, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia; Department for Oto-Rhino-Laryngology, Head and Neck Surgery, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

The Journal of Investigative Dermatology
|January 27, 2019
PubMed
Summary

UV radiation leaves a distinct mutation signature in head and neck cutaneous squamous cell carcinoma (cSCC) metastases. This UV signature can help identify the origin of neck and parotid gland tumors, differentiating them from mucosal cancers.

More Related Videos

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids
10:43

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids

Published on: December 23, 2022

4.1K
Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy
11:27

Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy

Published on: April 29, 2014

17.2K

Related Experiment Videos

Last Updated: Jan 30, 2026

Development of Compendium for Esophageal Squamous Cell Carcinoma
03:36

Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

831
Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids
10:43

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids

Published on: December 23, 2022

4.1K
Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy
11:27

Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy

Published on: April 29, 2014

17.2K

Area of Science:

  • Oncology
  • Genomics
  • Dermatology

Background:

  • Head and neck cutaneous squamous cell carcinoma (cSCC) commonly metastasize to neck lymph nodes and parotid glands.
  • Distinguishing cSCC metastases from mucosal or salivary gland cancers is challenging when the primary tumor is unknown.
  • Ultraviolet (UV) radiation is a known cause of cSCC, characterized by specific mutation patterns.

Purpose of the Study:

  • To analyze the mutation signature in cSCC metastases from the head and neck.
  • To determine if UV radiation is the predominant mutational driver in these metastases.
  • To investigate the potential role of UV-induced DNA damage in cSCC carcinogenesis and progression.

Main Methods:

  • Whole genome sequencing of 15 cSCC metastases from the head and neck.
  • Analysis of mutation patterns to identify a UV mutation signature.
  • Evaluation of mutational burden, particularly in insulator elements.
  • Assessment of UV-induced mutations in CCCTC-binding factor (CTCF) binding sites.

Main Results:

  • A pervasive UV mutation signature was identified in cSCC metastases, distinct from mucosal squamous cell carcinoma.
  • Mutational burden was exceptionally high in some genomic regions, especially insulator elements.
  • UV-induced mutations were found at the binding sites of the insulator protein CTCF.
  • The findings suggest a potential role for UV damage in cSCC carcinogenesis and genome organization.

Conclusions:

  • Mutation signature analysis can aid in determining the origin of neck and parotid gland metastases.
  • UV-induced DNA damage to insulator binding sites may contribute to cSCC development and progression.
  • Understanding the mutational landscape of cSCC is crucial for diagnosis and treatment strategies.