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

You might also read

Related Articles

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

Sort by
Same author

Comparison of Specific Glucagon-Like Peptide-1 Receptor Agonists on Kidney Outcomes Among Patients With Type 2 Diabetes.

American journal of kidney diseases : the official journal of the National Kidney Foundation·2026
Same author

Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women.

Cancer·2026
Same author

The survival double descent: generalization dynamics of deep neural networks in time-to-event analysis.

BMC medical research methodology·2026
Same author

Comparative effectiveness of sulfonylureas on kidney outcomes in adults with type 2 diabetes and moderate cardiovascular risk: a target trial emulation.

BMJ open diabetes research & care·2026
Same author

Comparative Effectiveness of Individual Sodium Glucose Transporter 2 Inhibitors on Cardiovascular Outcomes in Type 2 Diabetes With Moderate Cardiovascular Risk: Emulation of a Target Trial.

Journal of the American Heart Association·2026
Same author

The CARE framework for AI dataset documentation in clinical laboratories: a comprehensive checklist and data lineage methodology.

American journal of clinical pathology·2026

Related Experiment Video

Updated: Dec 20, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K

Mutation prevalence tables for hereditary cancer derived from multigene panel testing.

Steven N Hart1, Eric C Polley1, Amal Yussuf2

  • 1Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.

Human Mutation
|May 23, 2020
PubMed
Summary

Multigene panel testing identifies cancer predisposition mutations. An interactive tool reveals mutation prevalence across diverse populations and cancer types, aiding clinical decisions.

Keywords:
BRCA1BRCA2cancer mutation prevalencecarriermutation risk

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

24.8K
gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

12.6K

Related Experiment Videos

Last Updated: Dec 20, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K
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

24.8K
gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

12.6K

Area of Science:

  • Genetics
  • Oncology
  • Bioinformatics

Background:

  • Multigene panel testing for hereditary cancer is common but panel content varies.
  • Limited data exists on mutation detection rates, causing clinician confusion.
  • Understanding mutation prevalence across demographics is crucial for targeted genetic testing.

Purpose of the Study:

  • To develop an interactive tool for exploring pathogenic mutation prevalence in 31 cancer predisposition genes.
  • To analyze how ethnicity, age of onset, and personal/family cancer history influence mutation detection rates.
  • To provide insights into mutation prevalence across different hereditary cancer gene panels.

Main Methods:

  • Analysis of 147,994 multigene panel tests from Ambry Genetics.
  • Development of an interactive prevalence tool incorporating phenotypic variables.
  • Stratification of mutation carriers by ethnicity, cancer type, and panel composition.

Main Results:

  • Over 13,000 mutation carriers identified in a high-risk cohort.
  • Non-Hispanic white individuals comprised the largest group (74%), with significant representation from Black, Ashkenazi Jewish, Hispanic, and Asian populations.
  • Breast cancer (50%), ovarian (6.6%), and colorectal (4.7%) were the most prevalent cancer types associated with mutations.

Conclusions:

  • The Hereditary Cancer Multi-Gene Panel Prevalence Tool offers valuable insights into mutation prevalence.
  • The tool allows for customized analysis based on phenotypic variables like race and cancer type.
  • This resource can help clinicians make more informed decisions regarding hereditary cancer genetic testing.