Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

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

[The value of T1 mapping in the non-invasive assessment of the Oxford classification of IgA nephropathy].

Zhonghua nei ke za zhi·2025

Same author

[MRI findings of liver metastases from clear cell renal carcinoma and analysis of the impact of adjuvant therapy].

Zhonghua yi xue za zhi·2025

Same author

Developmental stage and morphology of the competent blastocyst are associated with sex of the child but not with other obstetric outcomes: a multicenter cohort study.

Human reproduction (Oxford, England)·2022

Same author

Search for New Phenomena in Final States with Two Leptons and One or No b-Tagged Jets at sqrt[s]=13 TeV Using the ATLAS Detector.

Physical review letters·2021

Same author

Search for Displaced Leptons in sqrt[s]=13 TeV pp Collisions with the ATLAS Detector.

Physical review letters·2021

Same author

Longitudinal Flow Decorrelations in Xe+Xe Collisions at sqrt[s_{NN}]=5.44 TeV with the ATLAS Detector.

Physical review letters·2021

Search research articles

Related Experiment Video

Updated: Jul 19, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

Evaluation of models to predict BRCA germline mutations.

H H Kang¹, R Williams, J Leary

¹Department of Medical Oncology, St Vincent's Hospital, Sydney, New South Wales, and Familial Cancer Service Westmead Institute for Cancer Research at Westmead Millenium Institute, University of Sydney, Australia.

British Journal of Cancer

|October 4, 2006

Summary

Four BRCA mutation risk prediction models showed limited impact on pre-test probability, indicating they are not currently justified for guiding BRCA testing decisions in similar populations.

More Related Videos

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

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

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Related Experiment Videos

Last Updated: Jul 19, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

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

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

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Area of Science:

Medical Genetics
Oncology
Clinical Decision-Making

Background:

Selecting candidates for BRCA germline mutation testing is clinically significant but challenging.
Risk prediction models aid in pretest counseling for BRCA mutations.

Purpose of the Study:

To evaluate the performance and inter-rater reliability of four BRCA risk assessment models: BRCAPRO, Manchester, Penn, and Myriad-Frank.
To determine the clinical utility of these models in predicting BRCA mutation status.

Main Methods:

Applied four risk assessment models to 380 pedigrees with known BRCA1/2 mutation analysis results.
Calculated sensitivity, specificity, predictive values, likelihood ratios, and ROC curves for each model.

Main Results:

Models showed minimal impact on pre-test probability; likelihood ratios were generally low.
Area under ROC curves were approximately 0.75 for all models.
Clinical barriers and inter-expert variability in risk estimates were observed.

Conclusions:

The evaluated BRCA risk prediction models have limited clinical utility for guiding BRCA testing decisions in the studied population.
Current evidence does not justify the use of these models for predicting BRCA mutation status in similar cohorts.
Further research is needed to improve the accuracy and applicability of BRCA risk prediction tools.