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

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

American journal of medical genetics. Part A·2026
Same author

Prognostic Relevance of Molecular Classification in Endometrial Cancer: Insights From a South African Cohort.

JCO global oncology·2026
Same author

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 <i>ATM</i> Splice-Site Variants.

International journal of molecular sciences·2026
Same author

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Nature communications·2026
Same author

Correction to: Frequent, dual and nighttime nicotine use among Dutch adolescents: findings from a school-based survey.

European journal of pediatrics·2026
Same author

Evidence for pathogenicity of <i>BRCA2</i> c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

Journal of medical genetics·2025

Related Experiment Video

Updated: Jul 16, 2025

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
11:12

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Published on: August 1, 2018

8.1K

Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue.

Lise M van Wijk1, Sylvia Vermeulen1, Natalja T Ter Haar2

  • 1Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.

Breast Cancer Research and Treatment
|September 19, 2023
PubMed
Summary

A new RAD51-based test accurately identifies homologous recombination deficiency (HRD) in breast cancer (BC) using FFPE samples. This functional HRD test shows high sensitivity and specificity, aiding treatment decisions for HRD tumors beyond BRCA mutations.

Keywords:
BRCA-deficiency and biomarkerBreast cancerHomologous recombination deficiencyRAD51-FFPE testRECAP test

More Related Videos

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

7.3K
Protocol for HER2 FISH Using a Non-cross-linking, Formalin-free Tissue Fixative to Combine Advantages of Cryo-preservation and Formalin Fixation
10:21

Protocol for HER2 FISH Using a Non-cross-linking, Formalin-free Tissue Fixative to Combine Advantages of Cryo-preservation and Formalin Fixation

Published on: December 25, 2017

13.7K

Related Experiment Videos

Last Updated: Jul 16, 2025

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
11:12

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Published on: August 1, 2018

8.1K
Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

7.3K
Protocol for HER2 FISH Using a Non-cross-linking, Formalin-free Tissue Fixative to Combine Advantages of Cryo-preservation and Formalin Fixation
10:21

Protocol for HER2 FISH Using a Non-cross-linking, Formalin-free Tissue Fixative to Combine Advantages of Cryo-preservation and Formalin Fixation

Published on: December 25, 2017

13.7K

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Breast cancers (BC) with homologous recombination (HR) deficiency, including BRCA-mutated tumors, are sensitive to platinum chemotherapy and PARP inhibitors.
  • HR deficiency (HRD) is present in breast cancers beyond those with BRCA mutations, necessitating alternative methods for identifying HRD tumors.
  • Functional HRD tests measuring RAD51 protein accumulation at DNA damage sites offer a promising approach to assess HR capability.

Purpose of the Study:

  • To evaluate the performance of a functional RAD51-based test for identifying HRD in breast cancer (BC) using formalin-fixed paraffin-embedded (FFPE) samples.
  • To assess the sensitivity and specificity of the RAD51-FFPE test in comparison to a gold standard functional HRD assay.

Main Methods:

  • The RAD51-FFPE test was applied to determine the functional HR status of 63 diagnostic FFPE breast cancer samples.
  • Samples were screened for HR defects, and matching tumor tissues were analyzed using the RECAP test, which assesses functional HR status on ex vivo irradiated fresh tumor tissue.

Main Results:

  • The RAD51-FFPE test identified 23 (37%) of the tumors as HRD, including three with pathogenic BRCA1/2 variants.
  • The RAD51-FFPE test demonstrated a sensitivity of 88% and a specificity of 76% compared to the RECAP test's HR classification.

Conclusions:

  • The RAD51-FFPE test is a highly sensitive and FFPE-compatible method with significant potential for enriching HRD tumors, including BRCA-deficient cases.
  • This functional HRD test is particularly valuable in settings where DNA-based testing is challenging or inaccessible, supporting clinical treatment decisions and patient stratification.