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Updated: Jun 10, 2026

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

Developing functional assays for BRCA1 unclassified variants.

Michelle Webb¹

¹Faculty of Medical and Human Sciences, Medical Genetics Research Group, The University of Manchester, Manchester, UK.

Methods in Molecular Biology (Clifton, N.J.)

|August 20, 2010

Summary

This summary is machine-generated.

Developing new assays to identify harmful BRCA1 gene mutations can prevent unnecessary surgeries for women with a family history of breast cancer. This research focuses on how mutations affect BRCA1 protein interactions and DNA binding.

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Last Updated: Jun 10, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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

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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

Area of Science:

Genetics
Molecular Biology
Oncology

Background:

Family history of breast cancer is often linked to BRCA1/BRCA2 gene mutations.
Genetic testing for these mutations impacts life-altering decisions, including preventive surgeries.
Not all identified mutations necessarily increase breast cancer risk.

Purpose of the Study:

To develop assays for determining which BRCA1 mutations adversely affect protein function.
To prevent unnecessary prophylactic surgeries in women with a family history of breast cancer.
To understand the functional impact of missense mutations in BRCA1.

Main Methods:

Developing assays to assess the functional impact of BRCA1 mutations.
Focusing on how missense mutations affect BRCA1 protein interactions.
Investigating the effect of mutations on BRCA1's interaction with DNA.

Main Results:

Identifying specific BRCA1 mutations that disrupt protein function.
Establishing a basis for an assay to predict cancer risk from mutations.
Understanding the role of BRCA1 interactions in cell-cycle and DNA damage response.

Conclusions:

Functional assays are crucial for accurate breast cancer risk assessment in mutation carriers.
Distinguishing pathogenic from benign mutations can guide clinical decisions.
This research aims to refine genetic testing interpretation for BRCA1 mutations.