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

Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.4K
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...
5.4K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.6K
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...
8.6K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

9.7K
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...
9.7K
Abnormal Proliferation02:23

Abnormal Proliferation

4.9K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.9K
Tumor Progression02:07

Tumor Progression

6.8K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.8K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.4K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.4K

You might also read

Related Articles

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

Sort by
Same author

Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.

Hypertension (Dallas, Tex. : 1979)·2026
Same author

The future of endodontic diagnosis: A narrative review focusing on biological markers.

JADA foundational science·2026
Same author

Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects.

Nature communications·2026
Same author

[Congenital insensitivity to pain caused by a novel SCN9A-genotype].

Laeknabladid·2026
Same author

Recommended Guidelines of the American Association of Endodontists for the Treatment of Traumatic Dental Injuries.

Journal of endodontics·2026
Same author

Prevalence and Predisposing Factors of Periapical Mucositis: A Cross-Sectional Study.

International endodontic journal·2026

Related Experiment Video

Updated: Nov 17, 2025

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

9.8K

Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.

Thorhildur Olafsdottir1, Simon N Stacey2, Gardar Sveinbjornsson2

  • 1deCODE Genetics/Amgen, Reykjavik, Iceland. thorhildur.olafsdottir@decode.is kari.stefansson@decode.is.

Cancer Research
|February 19, 2021
PubMed
Summary

Rare variants in the PTPN14 gene significantly increase the risk of basal cell carcinoma (BCC) and cervical cancer. This discovery highlights PTPN14 as a key gene in cancer predisposition and carcinogenesis.

More Related Videos

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

2.0K
Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
08:45

Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors

Published on: July 17, 2020

6.4K

Related Experiment Videos

Last Updated: Nov 17, 2025

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

9.8K
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

2.0K
Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
08:45

Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors

Published on: July 17, 2020

6.4K

Area of Science:

  • Genetics
  • Oncology
  • Genomic Epidemiology

Background:

  • Genome-wide association studies (GWAS) have identified common variants linked to cancer, but high-penetrance mutations in rare variants remain largely undiscovered.
  • Detecting associations between ultra-rare coding variants and cancer requires large-scale sequencing data and robust statistical methods.

Purpose of the Study:

  • To identify high-penetrance cancer predisposition genes by analyzing the association between loss-of-function (LoF) variants and cancer risk.
  • To investigate the role of the PTPN14 gene in basal cell carcinoma (BCC) and other cancer types.

Main Methods:

  • Utilized whole-genome and whole-exome sequencing data from Icelandic and UK Biobank populations, encompassing over 166,000 and 408,000 individuals, respectively.
  • Tested for association between germline LoF variants in autosomal genes and basal cell carcinoma (BCC) in a cohort of 25,205 cases and 683,058 controls.
  • Conducted follow-up analyses for PTPN14 LoF variants across 24 other cancer types and three benign tumor types.

Main Results:

  • Germline loss-of-function variants in PTPN14 were strongly associated with a significantly increased risk of basal cell carcinoma (BCC) (OR, 8.0; P = 1.9 × 10^-12).
  • A quarter of PTPN14 variant carriers developed BCC before age 70, with over half developing it in their lifetime.
  • PTPN14 LoF variants also conferred a high risk for cervical cancer (OR, 12.7; P = 1.6 × 10^-4) with an earlier age of diagnosis.

Conclusions:

  • The tumor-suppressor gene PTPN14 is identified as a significant high-impact predisposition gene for basal cell carcinoma (BCC).
  • Inactivation of PTPN14 through germline variants is linked to an elevated risk of developing cervical cancer.
  • These findings underscore the potential of large-scale sequencing data and advanced methods for uncovering novel genetic factors in carcinogenesis.