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Mouse Embryonic Stem Cell-based Functional Assay to Evaluate Mutations in BRCA2

Posted Jul 30 2012 8:00pm

Description of Invention:
Mutations in breast cancer susceptibility genes BRCA1 and BRCA2 have up to an 80% life time risk in developing breast cancer. There are no “mutation hot spots” and to date, more than 1,500 different mutations have been identified in BRCA2. The absence of tumor cell lines expressing various mutant BRCA2 alleles has hindered evaluations to determine the functional differences between different mutations.

A simple, versatile and reliable mouse embryonic stem cell and bacterial artificial chromosome based assay to generate cell lines expressing mutant human BRCA2 has been developed and it has been used to classify 17 sequence variants. Available for licensing are a wild-type and eleven mutant BRCA2 cell lines developed from this assay that have either truncations or point mutations. These cell lines may be used to evaluate the effect of DNA damaging agents, genotoxins and chemotherapeutic efficacy.

  • Research tool to generate and study BRCA2 mutations
  • Method to screen for chemotherapeutics
  • Method to evaluate DNA damaging agents

Ready to use portfolio of BRCA2 mutant cell lines to study BRCA2 mutant functional analysis

Shyam K Sharan (NCI)
Sergey Kuznetsov (NCI)

Patent Status:
HHS, Reference No. E-261-2007/0

Research Tool — Patent protection is not being pursued for this technology.

Relevant Publication:
  1. Kuznetsov SG, et al. [ PMID 18607349 ]

Collaborative Research Opportunity:
The Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize mouse embryonic stem cell lines suitable for functional analysis of BRCA2 variants. Please contact John Hewes, Ph.D. at for more information.

For Licensing Information Please Contact:
Jennifer Wong
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4633
Fax: 301-402-0220

Ref No: 1786

Updated: 07/2012

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