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

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

56
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
56

You might also read

Related Articles

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

Sort by
Same author

Achievement of Target Gain Larger than Unity in an Inertial Fusion Experiment.

Physical review letters·2024
Same author

Tinkering with care: Implementing extended-release buprenorphine depot treatment for opioid dependence.

The International journal on drug policy·2024
Same author

Rare Variant of Lateral Medullary Syndrome; Opalski Syndrome with Cerebellar Infarction.

Irish medical journal·2023
Same author

Extreme eutrophication and salinisation in the Coorong estuarine-lagoon ecosystem of Australia's largest river basin (Murray-Darling).

Marine pollution bulletin·2023
Same author

Lawson Criterion for Ignition Exceeded in an Inertial Fusion Experiment.

Physical review letters·2022
Same author

Warming and redistribution of nitrogen inputs drive an increase in terrestrial nitrous oxide emission factor.

Nature communications·2022
Same journal

Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening?

Familial cancer·2026
Same journal

Transitioning from the Prospective Lynch Syndrome Database (PLSD) to the International Lynch Syndrome Database (ILSD).

Familial cancer·2026
Same journal

Expanding access to hereditary cancer genetic testing: a quality improvement initiative of mainstreaming in a diverse urban gynecology clinic.

Familial cancer·2026
Same journal

When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling.

Familial cancer·2026
Same journal

The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.

Familial cancer·2026
Same journal

Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.

Familial cancer·2026
See all related articles

Related Experiment Video

Updated: Mar 2, 2026

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

10.1K

Next generation sequencing is informing phenotype: a TP53 example.

R O'Shea1, R Clarke2, E Berkley2

  • 1Cancer Genetic Service, Mater Misericordiae University Hospital, Dublin, 7, Ireland. rosieoshea92@yahoo.com.

Familial Cancer
|May 17, 2017
PubMed
Summary
This summary is machine-generated.

Stringent TP53 genetic testing criteria may miss Li-Fraumeni syndrome (LFS) mutations. Broadening testing may improve understanding of TP53 mutation phenotypes and penetrance in families with early-onset cancers.

Keywords:
Li FraumeniMultigene panelsTesting criteria

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K

Related Experiment Videos

Last Updated: Mar 2, 2026

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

10.1K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.2K

Area of Science:

  • Genetics
  • Oncology

Background:

  • Next-generation sequencing and multi-gene panel testing increase TP53 testing in families not meeting classic criteria.
  • TP53 gene mutations are associated with Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL).

Purpose of the Study:

  • To investigate TP53 testing criteria, family history, and outcomes in Irish probands.
  • To assess the mutation detection rate in individuals not meeting established LFS/LFL criteria.

Main Methods:

  • Retrospective review of 135 TP53 full sequencing test requests from 2012-2014.
  • Collection of personal and family cancer histories, including tumor type and age at diagnosis.
  • Examination of the association between LFS/LFL criteria and TP53 test results.

Main Results:

  • 123 patients had available data; 59 (48%) did not meet classic LFS/LFL criteria.
  • A 3% TP53 mutation detection rate was observed in those not meeting criteria (2/59), both with early-onset breast cancer.
  • 52% of patients (64/123) met LFS/LFL criteria but were TP53 negative.

Conclusions:

  • Current stringent TP53 testing criteria may miss individuals with pathogenic germline mutations.
  • Expanding TP53 testing criteria could enhance understanding of LFS/LFL phenotypes and penetrance.