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 Experiment Videos

[Peutz-Jeghers syndrome].

M Miyaki1

  • 1Hereditary Tumor Research Project, Tokyo Metropolitan Komagome Hospital.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|August 2, 2000
PubMed
Summary

Peutz-Jeghers syndrome (PJS) is an inherited disorder causing melanin spots and polyps. Mutations in the LKB1 (STK11) gene are linked to PJS and increased cancer risk.

Related Concept Videos

You might also read

Related Articles

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

Sort by
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
Same author

A new formula for a mild body cleanser: sodium laureth sulphate supplemented with sodium laureth carboxylate and lauryl glucoside.

International journal of cosmetic science·2014
Same author

Functional categories of TP53 mutation in colorectal cancer: results of an International Collaborative Study.

Annals of oncology : official journal of the European Society for Medical Oncology·2006
Same author

Cancer risks in LKB1 germline mutation carriers.

Gut·2006
Same author

A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours.

Gut·2003

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • Characterized by mucocutaneous melanin spots and gastrointestinal hamartomatous polyps.
  • Associated with an increased risk of various carcinomas.

Purpose of the Study:

  • To summarize the genetic basis of Peutz-Jeghers syndrome.
  • To highlight the role of the LKB1 (STK11) gene.
  • To discuss the implications for cancer development.

Main Methods:

  • Literature review of genetic studies on PJS.
  • Analysis of identified germline mutations in the LKB1 (STK11) gene.
  • Review of tumor suppressor gene function and cancer formation mechanisms.

Main Results:

  • The LKB1 (STK11) gene, located at 19p13.3, is identified as the causative gene for PJS.
  • Germline mutations (nonsense, frameshift, missense) inactivating LKB1 are found in approximately 50 PJS families.
  • LKB1 (STK11) functions as a tumor suppressor gene.

Conclusions:

  • Germline mutation and loss of the normal allele of LKB1 (STK11) likely contribute to hamartomatous polyp formation in PJS.
  • The precise function of LKB1 (STK11) and the mechanisms of carcinoma development in PJS remain to be fully elucidated.

Related Experiment Videos