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Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Related Experiment Video

Updated: Jul 3, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

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

Published on: February 17, 2011

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Sergey G Kuznetsov1, Pentao Liu, Shyam K Sharan

  • 1Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, 1050 Boyles Street, Frederick, Maryland 21702, USA.

Nature Medicine
|July 9, 2008
PubMed
Summary
This summary is machine-generated.

A new functional assay using mouse stem cells can now assess the impact of BRCA2 gene mutations. This breakthrough aids in understanding breast cancer risk for thousands of variants previously unclassified.

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Related Experiment Videos

Last Updated: Jul 3, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

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Published on: February 17, 2011

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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Mutations in BRCA1 and BRCA2 genes significantly increase breast cancer risk.
  • Genetic tests identify carriers, but many variants lack functional classification.
  • Over 1,900 BRCA1/BRCA2 variants remain unclassified, hindering risk assessment.

Purpose of the Study:

  • To develop a functional assay for assessing BRCA2 variants.
  • To classify the functional significance of uncharacterized BRCA2 mutations.
  • To provide a model for functional analysis of disease-associated gene variants.

Main Methods:

  • Established a functional assay using mouse embryonic stem (ES) cells.
  • Employed bacterial artificial chromosomes for gene complementation studies.
  • Tested the ability of human BRCA2 to rescue Brca2 loss in mouse ES cells.

Main Results:

  • Successfully classified 17 previously uncharacterized BRCA2 sequence variants.
  • Demonstrated the assay's reliability and versatility for functional testing.
  • Validated the complementation assay for assessing gene function.

Conclusions:

  • The developed assay effectively determines the functional significance of BRCA2 mutations.
  • This method aids in accurate breast cancer risk assessment for unclassified variants.
  • The technique offers a paradigm for functional analysis of mutations in other disease-related genes.