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

5.1K
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...
5.1K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.9K
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...
7.9K

You might also read

Related Articles

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

Sort by
Same author

Investigating Prognostic Factors for Primary Endoscopic Third Ventriculostomy in Adults and Elderly Patients with Noncommunicating Hydrocephalus.

World neurosurgery·2026
Same author

Impact of DNA damage repair alterations on real-world response to therapy in metastatic colorectal cancer.

ESMO open·2025
Same author

Intraoperative Assessment of Nerve Traction Injury in Obstetric Brachial Plexus Palsy.

Journal of brachial plexus and peripheral nerve injury·2025
Same author

Efficacy assessment in phase I clinical trials: endpoints and challenges.

Annals of oncology : official journal of the European Society for Medical Oncology·2025
Same author

Happiness across the borders-A cross-sectional study among patients with psoriasis and atopic dermatitis in Europe.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024
Same author

Making Informed Choices On Incorporating Chemoprevention into carE (MiCHOICE, SWOG 1904): Design and methods of a cluster randomized controlled trial.

Contemporary clinical trials·2024

Related Experiment Video

Updated: Sep 6, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.8K

Discrepancies between tumor genomic profiling and germline genetic testing.

K Pauley1, C Koptiuch1, S Greenberg1

  • 1Family Cancer Assessment Clinic, Huntsman Cancer Institute, Salt Lake City, USA.

ESMO Open
|July 3, 2022
PubMed
Summary

Tumor genomic profiling can miss important germline pathogenic variants (PVs). Discrepancies between somatic and germline testing impact patient management and treatment, underscoring the need for comprehensive genetic evaluation.

Keywords:
germline genetic testinghereditary cancerprecision medicinesomatic testing

More Related Videos

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

24.5K
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

838

Related Experiment Videos

Last Updated: Sep 6, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.8K
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

24.5K
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

838

Area of Science:

  • Oncology
  • Genetics
  • Clinical Diagnostics

Background:

  • Tumor genomic profiling (TGP) sometimes incidentally detects germline pathogenic variants (PVs) linked to hereditary cancer syndromes.
  • Somatic testing labs use different methods than germline labs for identifying germline PVs.
  • Discrepancies between these testing methods can affect patient care.

Purpose of the Study:

  • To evaluate discrepancies between somatic and germline genetic testing results.
  • To assess the impact of these discrepancies on patient management and treatment decisions.

Main Methods:

  • Retrospective chart review of patients undergoing both somatic and germline genetic testing at a single institution.
  • Analysis of cases with discrepant results, including missed PVs and differing variant classifications.

Main Results:

  • Of 600 patients with both tests, 109 had germline PVs identified.
  • 20 cases showed discrepancies: 14 PVs missed by somatic testing, 6 with different classifications.
  • 3 PVs identified by germline testing were targets for PARP inhibitors, altering treatment.

Conclusions:

  • Somatic testing methods may not be optimized for germline PV detection, potentially missing critical findings.
  • Unrecognized germline PVs can lead to missed hereditary syndrome diagnoses and lost targeted therapy opportunities.
  • Comprehensive germline assessment is crucial for all patients meeting genetic evaluation criteria, irrespective of somatic testing results.