Description of Invention:
Novel human nucleic acid sequences and polypeptides derived from the tumor suppressor, PTC or patched gene which have been mapped to human chromosome 9q22.3-q31, have been discovered for use in cancer diagnosis and therapy. Mutations of this gene are associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) a disease associated with skin cancer and human developmental defects such as Gorlin Syndrome comprising skeletal defects, craniofacial and brain abnormalities. Methods of detection of PTC in a tissue sample have been found as well as recombinant cells, antibodies, and pharmacological compositions useful in treatment of the disease. Methods of diagnosis of and therapy for NBCCS have also been found. The PTC gene is thought to encode a protein which selectively switches off growth factor production in certain cells by interaction with members of the family of proteins encoded by the "hedgehog" gene, which instructs cells during development and growth. NBCCS is the result of abnormal PTC gene products that encode non-functional or functionally reduced NBCCS polypeptides. This lack of function may be caused by insertions, deletions, point mutations, splicing errors, premature termination codons, missing initiators, etc. The tumors caused by NBCCS are slow growing tumors that rarely metastasize, but which can cause significant morbidity and occasional mortality from local invasion. The PTC gene is also associated with medulloblastomas and trichoepitheliomas.
Newly discovered germline and sporadic mutations associated with NBCCS have been disclosed and claimed in the International (PCT) application.
Inventors:
Michael C. Dean et al. (NCI)
Patent Status:
DHHS Reference No. E-104-1996/1 --
U.S. Patent No. 6,552,181 issued 22 Apr 2003
U.S. Patent Application No. 10/302,279 filed 22 Nov 2002
Portfolios: Cancer
Cancer -Diagnostics Cancer -Therapeutics Cancer -Research Materials
For Additional Information Please Contact: Mojdeh Bahar J.D.
NIH Office of Technology Transfer
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Phone: (301)435-2950
Email: baharm@mail.nih.gov
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