Mouse Embryonic Stem Cell-based Functional Assay to Evaluate Mutations in BRCA2
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.
Applications:
Research tool to generate and study BRCA2 mutations
Method to screen for chemotherapeutics
Method to evaluate DNA damaging agents
Advantages:
Ready to use portfolio of BRCA2 mutant cell lines to study BRCA2 mutant functional analysis
Market:
An estimated 180,510 new cases of breast cancer will be diagnosed and may cause 40,480 deaths in the U.S. in 2008.
Patent Status:
DHHS Reference No. E-261-2007/0 – Research Tool
Patent protection is not being pursued for this technology.
Relevant Publication: SG Kuznetsov et al. Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Nat Med. 2008, in press. Published online 11 July 2008, doi:10.1038/nm.1719. [PubMed abs]
Licensing Status: Available for biological materials licensing only.
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 D. Hewes, Ph.D. at 301-435-3121 or hewesj@mail.nih.gov for more information.
Portfolios: Miscellaneous Devices/Instrumentation Cancer
Cancer -Research Materials-Other Cancer -Research Materials Devices/Instrumentation-Research Materials Miscellaneous-Miscellaneous
For Additional Information Please Contact: Jennifer Wong
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301)435-4633
Email: wongje@mail.nih.gov
Fax: (301)402-0220
