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

ASO Visual Abstract: Impact of Surgical Delay on Breast Cancer Prognosis: Systematic Review and Meta-Analysis.

Annals of surgical oncology·2026
Same author

Design of an artificial intelligence model to screen spontaneous speech to detect Alzheimer's Disease.

PLOS digital health·2026
Same author

Impact of Surgical Delay on Breast Cancer Prognosis: Systematic Review and Meta-analysis.

Annals of surgical oncology·2026
Same author

Neoadjuvant Capecitabine in Advanced Cutaneous Squamous Cell Carcinoma of the Head and Neck.

JAMA dermatology·2026
Same author

Guidance for Canadian Breast Cancer Practice: National Consensus Recommendations for the Systemic Treatment of Patients with Triple Negative Breast Cancer in Both the Early and Metastatic Setting 2025.

Current oncology (Toronto, Ont.)·2026
Same author

Management of Radial Scars and Complex Sclerosing Lesions of the Breast: To Excise or Not to Excise?

World journal of surgery·2026

Related Experiment Video

Updated: Jun 14, 2025

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

12.2K

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Zoulikha Rezoug1,2,3, Stephanie P Totten4, David Szlachtycz1,5

  • 1Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montréal, Québec, Canada.

JAMA Network Open
|September 3, 2024
PubMed
Summary
This summary is machine-generated.

A study found that 7.3% of women with newly diagnosed breast cancer had germline pathogenic variants (GPVs). Over 5% tested positive for BRCA1, BRCA2, and PALB2 (B1B2P2) variants, with one-third eligible for PARP inhibitors.

More Related Videos

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
07:59

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

1.0K
A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction
10:35

A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction

Published on: April 5, 2018

10.3K

Related Experiment Videos

Last Updated: Jun 14, 2025

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

12.2K
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
07:59

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

1.0K
A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction
10:35

A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction

Published on: April 5, 2018

10.3K

Area of Science:

  • Oncology
  • Genetics
  • Genomics

Background:

  • 5-10% of breast cancers stem from inherited gene variants, impacting treatment.
  • Current genetic testing criteria may miss some of these cases.

Purpose of the Study:

  • To determine the prevalence and clinicopathological associations of germline pathogenic variants (GPVs) in breast cancer susceptibility genes (BCSGs).
  • To evaluate GPVs in an ethnically diverse cohort of newly diagnosed breast cancer patients.

Main Methods:

  • Cross-sectional study offering universal genetic counseling and testing to 805 women with invasive breast cancer.
  • Primary panel: BRCA1, BRCA2, and PALB2 (B1B2P2). Secondary panel: 14 additional BCSGs.
  • Data analyzed from November 2023 to June 2024.

Main Results:

  • 7.3% of patients (53/729) had GPVs.
  • 5.3% tested positive for B1B2P2 variants; 2.1% for secondary panel genes.
  • Younger age at diagnosis, triple-negative breast cancer, high grade, and family history of ovarian cancer were associated with B1B2P2 positivity.
  • 33.3% of B1B2P2-positive patients were eligible for PARP inhibitors.

Conclusions:

  • Universal genetic testing identified GPVs in 7.3% of women with newly diagnosed breast cancer.
  • 5.3% had B1B2P2 variants, with a significant proportion eligible for PARP inhibitors.
  • Findings support broader genetic testing for improved breast cancer management.