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Biomarkers For Birt-Hogg-Dube (BHD) Syndrome And Renal Cancer

Background:
The National Cancer Institute's Urologic Oncology Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize detection methods to screen a biomarker for renal cancer. 

Technology:
Birt-Hogg-Dube' (BHD) syndrome is a potentially disfiguring  dermatologic disorder associated with an increased risk for developing renal cancer, spontaneous pneumothorax and lung cysts. This invention describes the identification and characterization of a FNIP1 homolog, folliculin-interacting protein 2 (FNIP2), that interacts with folliculin.  Folliculin is the protein encoded by the FLCN gene, which is responsible for the Birt-Hogg-Dube (BHD) syndrome.  Importantly, FNIP2 expression was elevated in renal tumors seen in BDH patients.  This finding suggests that FNIP2 may serve as a biomarker for BHD.  Additionally, this technology could facilitate the development of therapeutic drugs to treat the skin lesions and renal tumors that develop in BHD patients.

Further R&D Needed:

• Determine the mechanism by which folliculin in complex with FNIP2 performs a biological function in the normal cell

• Determine whether BHD mutations interfere with the formation of the complex

• Analyze the pathways within the folliculin/FNIP2 complex to enable targeting by intervention drugs

• Potential biomarkers for the diagnosis of Birt-Hogg-Dube' (BHD) syndrome

• Potential diagnostics for renal cancer

• Ability to develop topical creams and therapeutics for BHD-related skins lesions and renal tumors

This opportunity is also listed under the following categories:

• Therapeutics
• Diagnostics