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Related Experiment Video

Updated: Jun 3, 2026

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

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Published on: February 17, 2011

Functional evaluation and clinical classification of BRCA2 variants.

Huaizhi Huang^1,2,3, Chunling Hu⁴, Jie Na⁵

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

|January 8, 2025

Summary

Functional characterization of BRCA2 variants using CRISPR-Cas9 technology improves cancer risk assessment. This study classified 91% of BRCA2 variants, aiding clinical management for patients with genetic testing results.

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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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Last Updated: Jun 3, 2026

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

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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

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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:

Genetics and genomics
Cancer biology
Molecular diagnostics

Background:

Germline BRCA2 loss-of-function variants increase cancer predisposition.
Variants of uncertain significance (VUS) hinder clinical utility of genetic testing.
Functional characterization is crucial for classifying all BRCA2 variants.

Purpose of the Study:

To functionally characterize single-nucleotide variants in the BRCA2 DNA-binding domain.
To classify BRCA2 variants for improved clinical management.
To assess the association of BRCA2 variants with cancer risk.

Main Methods:

Utilized saturation genome editing with CRISPR-Cas9 in HAP1 cells.
Analyzed single-nucleotide variants in BRCA2 exons 15-26.
Employed a VarCall Bayesian model for pathogenicity categorization.

Main Results:

6,959 out of 6,960 variants were evaluated and assigned pathogenicity categories.
Loss-of-function missense variants in BRCA2 correlate with increased breast and ovarian cancer risks.
91% of variants were classified as pathogenic, likely pathogenic, benign, or likely benign.

Conclusions:

This functional assay approach enables robust classification of BRCA2 variants.
Classified variants enhance clinical decision-making for individuals undergoing genetic testing.
Improved classification of BRCA2 variants aids in managing hereditary cancer risks.