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

Hamartomatous polyposis syndromes.

Kevin M Zbuk1, Charis Eng

  • 1Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

Nature Clinical Practice. Gastroenterology & Hepatology
|September 5, 2007
PubMed
Summary
This summary is machine-generated.

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

Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.

Endocrine-related cancer·2023
Same author

A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.

Annals of surgical oncology·2023
Same author

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.

American journal of medical genetics. Part C, Seminars in medical genetics·2023
Same author

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Human molecular genetics·2023
Same author

Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.

Breast cancer research and treatment·2023
Same author

Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.

NPJ genomic medicine·2023

Hamartomatous polyposis syndromes, including juvenile polyposis, Peutz-Jeghers, and PTEN hamartoma tumor syndromes, involve gastrointestinal polyps and increased cancer risk. Accurate diagnosis is crucial for management and genetic counseling.

Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Hamartomatous polyposis syndromes are inherited disorders characterized by gastrointestinal hamartomatous polyps.
  • These syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and PTEN hamartoma tumor syndrome, have varying polyp characteristics and cancer predispositions.
  • Recognition is vital due to significant morbidity and mortality from both malignant and non-malignant complications.

Purpose of the Study:

  • To highlight the importance of recognizing hamartomatous polyposis syndromes.
  • To emphasize the need for accurate diagnosis for tailored surveillance and management strategies.
  • To underscore the role of genetic testing in patient and family management.

Main Methods:

  • Review of clinical and genetic features of hamartomatous polyposis syndromes.

Related Experiment Videos

  • Discussion of diagnostic criteria and surveillance recommendations.
  • Exploration of molecular pathogenesis and therapeutic implications.

    • Main Results:

    • Hamartomatous polyposis syndromes present with diverse clinical manifestations and malignancy risks.
    • Accurate diagnosis guides syndrome-specific management and surveillance.
    • Genetic testing facilitates predictive testing for at-risk family members.

    Conclusions:

    • Accurate diagnosis of hamartomatous polyposis syndromes is essential for effective management and risk stratification.
    • Understanding molecular pathogenesis aids in developing targeted therapies for these and sporadic malignancies.
    • Early recognition enables timely genetic counseling and family-focused interventions.