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

Cancers Originate from Somatic Mutations in a Single Cell02:21

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...
Cancer Prevention02:59

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

Cancer-Critical Genes II: Tumor Suppressor Genes

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...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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,...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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...
Cancer Prevention02:59

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...

You might also read

Related Articles

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

Sort by
Same author

Randomized controlled trial of bromelain and alpha-lipoic acid in breast conservative surgery.

Scientific reports·2025
Same author

WITHDRAWN: Corrigendum to 'Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise' [Forensic. Sci. Int. Genet. 15 (2015) 56-63].

Forensic science international. Genetics·2018
Same author

Corrigendum to "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise" [Forensic. Sci. Int. Genet. 15 (2015) 56-63].

Forensic science international. Genetics·2018
Same author

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.

Forensic science international. Genetics·2014
Same author

Effects of washing of the face with a mild facial cleanser formulated with sodium laureth carboxylate and alkyl carboxylates on acne in Japanese adult males.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2014
Same author

The long-term use of soap does not affect the pH-maintenance mechanism of human skin.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2014

Related Experiment Video

Updated: Jul 16, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

Cancer risks in LKB1 germline mutation carriers.

H Mehenni1, N Resta, J-G Park

  • 1Unité de Gastroentérologie et Hépatologie, Centre Médico-chirurgical de Plainpalais et Département de Biologie Cellulaire, Université de Genève, Switzerland. mehenni@cellbio.unige.ch

Gut
|January 13, 2006
PubMed
Summary

Germline mutations in the LKB1 gene significantly increase cancer risk in Peutz-Jeghers syndrome patients. Exon 6 mutations heighten this risk, necessitating tailored surveillance protocols for LKB1 carriers.

More Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer
06:51

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer

Published on: July 21, 2018

Related Experiment Videos

Last Updated: Jul 16, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer
06:51

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer

Published on: July 21, 2018

Area of Science:

  • Genetics and Oncology
  • Hereditary Cancer Syndromes

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by germline mutations in the LKB1 gene.
  • PJS is characterized by hamartomatous polyposis and mucocutaneous pigmentation, with an elevated risk of various cancers.
  • Limited data exists on the specific cancer spectrum and risks associated with LKB1 germline mutations.

Purpose of the Study:

  • To estimate the cumulative incidence of cancer in patients with PJS due to LKB1 germline mutations.
  • To compare cancer risks between different subgroups of LKB1 mutation carriers.
  • To provide age-related cancer risk data for developing personalized surveillance strategies.

Main Methods:

  • Kaplan-Meier analysis was used to estimate cumulative cancer incidence in 149 PJS patients with LKB1 mutations.
  • Log rank tests were employed to compare cancer risks across relevant patient subgroups.
  • Cancer onset and type were meticulously recorded and analyzed.

Main Results:

  • Overall cancer risks at age 70 reached 67% in LKB1 mutation carriers.
  • Gastrointestinal cancers were most common (22/32), with cumulative risks at age 70 reaching 63%.
  • Females with LKB1 mutations had significant risks for gynecologic cancers (18% by age 50).
  • Mutations in exon 6 of LKB1 were associated with a significantly higher overall cancer risk (p=0.022), particularly in females (p=0.0000084).

Conclusions:

  • LKB1 exon 6 mutations confer a higher cancer risk compared to mutations in other gene regions.
  • This study provides crucial age-specific cumulative cancer risks for LKB1 mutation carriers.
  • The findings support the development of tailored cancer surveillance protocols for Peutz-Jeghers syndrome patients.