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

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.0K
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...
8.0K

You might also read

Related Articles

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

Sort by
Same author

Germline cancer risk alleles drive myelodysplastic neoplasms throughout adulthood.

Leukemia·2026
Same author

Comparison of PBS-Caffeine and Caffeine Buffers for Inhibiting Exocytosis During Horseshoe Crab Blood Collection and Improving the Yield of Limulus Amebocyte Lysate (LAL) for Endotoxin Detection.

International journal of molecular sciences·2026
Same author

Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder.

Blood advances·2026
Same author

Pacritinib Impact on QT Interval: Results of a Thorough QT Study and Post Hoc Analysis of Prospective Clinical Trial Data.

Clinical pharmacology in drug development·2026
Same author

A Post Hoc Analysis of Demographic, Socioeconomic, Health and Mental Health Factors Following a Lactation-Consultant-Led Telephone Breastfeeding Support Program.

Nutrients·2026
Same author

Development and Evaluation of a Mesh-Polyvinyl Alcohol Hydrogel Composite Small Bowel for Small Bowel Anastomosis Training.

Simulation in healthcare : journal of the Society for Simulation in Healthcare·2026

Related Experiment Video

Updated: Sep 12, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.5K

Detecting likely germline variants during tumor-based molecular profiling.

Diana Jaber1, Jessica Zhang1, Lucy A Godley1,2

  • 1Department of Medicine, Northwestern Medicine, Chicago, Illinois, USA.

The Journal of Clinical Investigation
|August 4, 2025
PubMed
Summary

Next-generation sequencing (NGS) tumor profiling increasingly detects germline DNA alterations. Understanding these incidental findings is crucial for accurate cancer risk assessment and personalized treatment strategies.

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

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

Related Experiment Videos

Last Updated: Sep 12, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.5K
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

Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Molecular profiling using next-generation sequencing (NGS) is integral to cancer diagnosis, prognosis, and treatment.
  • NGS tumor profiling, while designed for somatic variants, frequently identifies germline DNA alterations.
  • Traditional germline risk assessment relies on clinical factors, but incidental findings from NGS are increasing.

Purpose of the Study:

  • To review the nuances of identifying potential germline DNA variants during NGS tumor profiling.
  • To highlight differences between germline and tumor-based profiling platforms, sample types, and methodologies.
  • To guide clinicians in optimizing testing strategies for germline cancer risk in the era of precision oncology.

Main Methods:

  • Review of current literature and clinical guidelines on germline variant identification in tumor profiling.
  • Comparative analysis of comprehensive germline testing versus tumor-based profiling platforms.
  • Discussion of analytical methodologies and sample type considerations.

Main Results:

  • NGS tumor profiling incidentally identifies germline alterations with increasing frequency.
  • Pathogenic/likely pathogenic germline variants are key biomarkers for risk stratification and treatment.
  • Expanded consensus guidelines recommend comprehensive germline testing for more cancer patients.

Conclusions:

  • Clinicians must understand the distinctions between germline and tumor-based profiling to interpret incidental findings.
  • Optimizing testing strategies leverages insights for germline cancer risk surveillance and management.
  • Precision oncology necessitates adept navigation of germline variant data for all cancer patients.