Description of Invention:
The present invention provides compositions and methods useful in the diagnosis and prognosis of Carney complex (CNC), as well as methods and compositions for the identification of compounds useful in the treatment and/or prevention of CNC. CNC is a multiple endocrine neoplasia syndrome that affects the adrenal cortex, pituitary gland, thyroid gland and gonads. Additionally, compositions and methods are provided for the diagnosis and treatment of conditions associated with skin pigmentation defects, including but not limited to, freckling, as well as endocrine tumors including, but not limited to, adrenal and pituitary tumors. Finally, compositions and methods are provided for the diagnosis and treatment of various types of cancers associated with abnormal protein kinase A activity, and cancers and tumors in which protein kinase A regulatory subunit 1A acts as a tumor-suppressor gene. These actions are possible due to the identification of specific genetic sequences, and the use of this information in assay systems to detect, diagnose and treat the aforementioned conditions.
Inventors:
Constantine A. Stratakis Lawrence S. Kirschner (NICHD)
Patent Status:
DHHS Reference No. E-259-00/0 filed 25 Aug 2000
Portfolios: Cancer
Cancer -Diagnostics-In Vitro Cancer -Diagnostics Cancer -Therapeutics
For Additional Information Please Contact: Mojdeh Bahar J.D.
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301)435-2950
Email: baharm@mail.nih.gov
Fax: (301) 402-0220
