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

Skin Cancer

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...

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...

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...

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Cancer Prevention

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Search research articles

Home
Research Domains
Biomedical And Clinical Sciences
Oncology And Carcinogenesis
Predictive And Prognostic Markers
Skin Cancer Risk Is Increased By Somatic Mutations Detected Noninvasively In Healthy-appearing Sun-exposed Skin.

Home
Research Domains
Biomedical And Clinical Sciences
Oncology And Carcinogenesis
Predictive And Prognostic Markers
Skin Cancer Risk Is Increased By Somatic Mutations Detected Noninvasively In Healthy-appearing Sun-exposed Skin.

Related Experiment Video

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kulvinder Kaur¹, Rizi Ai¹, Allyson G Perry¹

¹DermTech, San Diego, California, USA.

The Journal of Investigative Dermatology

|March 21, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Somatic mutations in sun-exposed skin are a significant indicator of skin cancer risk. This noninvasive test quantifies these mutations, improving risk assessment beyond traditional factors like age and skin tone.

Keywords:

Fitzpatrick skin type Precision medicine Risk factors Tumor evolution

More Related Videos

Cell Population Analyses During Skin Carcinogenesis

Cell Population Analyses During Skin Carcinogenesis

Published on: August 21, 2013

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Related Experiment Videos

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Cell Population Analyses During Skin Carcinogenesis

Cell Population Analyses During Skin Carcinogenesis

Published on: August 21, 2013

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Area of Science:

Dermatology
Genetics
Cancer Research

Background:

Ultraviolet radiation (UVR) exposure is a primary cause of skin cancer, with risk accumulating over time.
Age and lighter skin tone are established risk factors for skin cancer due to UVR susceptibility.
Current risk assessment models do not incorporate measurements of somatic mutations in healthy-appearing skin.

Purpose of the Study:

To develop a noninvasive method for quantifying somatic mutations in sun-exposed skin.
To integrate somatic mutation data with existing risk factors to create a predictive skin cancer risk model.
To evaluate the performance and calibration of the developed risk assessment model.

Main Methods:

A noninvasive test was developed to quantify somatic mutations in healthy-appearing, sun-exposed skin.

A cohort of 1038 subjects was analyzed using the developed test.

A predictive model, DNA-Skin Cancer Assessment of Risk (DS-CAR), was trained using somatic mutation counts, age, family history, and skin tone.

Main Results:

The inclusion of somatic mutation count significantly enhanced the predictive performance of the skin cancer risk model (OR = 1.3, P = 5.3 × 10⁻⁶).
Somatic mutation count provided more significant risk information than skin tone.
The DS-CAR model demonstrated good calibration, with calculated risks aligning with US population prevalence.

Conclusions:

Somatic mutations in healthy-appearing, sun-exposed skin are a significant factor in increasing skin cancer risk.
Quantifying somatic mutations provides risk information not captured by traditional factors like age, family history, and skin tone.
The noninvasive nature of sample collection via adhesive patches supports the clinical utility of this new risk assessment approach.