Out-licensing

The diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is difficult because the disease lacks phenotypic signs that might facilitate its presymptomatic diagnosis.  This invention is based on the identification of a new splice variant of a gene that appears to exist specifically in HNPCC, namely “Pot1” or “Protection of Telomeres.”  Pot1 has a critical role in ensuring chromosome stability by binding to telomeres.  The invention presents a variant of Pot1 that is present in mismatch repair-deficient, but not proficient, cancer cell lines and primary, non-tumor tissue samples.  The presence of this variant may be useful both as a diagnostic marker for HNPCC, and as a new therapeutic target for the treatment of HNPCC.

Applications and Modality:

• Identification of new “Pot1” variant gene associated with HNPCC
• New gene can be used as a potential diagnostic biomarker for the diagnosis of HNPCC
• Pot1 as a new therapeutic target for the treatment of HNPCC

Related Publications:

1. P Baumann et al. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. Mol Cell Biol. 2002 Nov;22(22):8079-8087.  [PubMed abs]
2. A Umar et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004 Feb 18;96(4):261-268.  [PubMed abs]
3. HT Lynch et al. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. Cancer. 2004 Jan 1;100(1):53-64.  [PubMed abs]
4. Q Yang et al. Functional diversity of human protection of telomeres 1 isoforms in telomere protection and cellular senescence. Cancer Res. 2007 Dec 15;67(24):11677-11686.  [PubMed abs]

• U.S. Provisional Application No. 60/620,754 filed 20 Oct 2004 (HHS Reference No. E-263-2004/0-US-01), entitled “POT1 Alternating Splice Variants”
• International Patent Application No. PCT/US2005/037957 filed 19 Oct 2005, which published as WO 2006/045062 on 27 Apr 2006 (HHS Reference No. E-263-2004/0-PCT-02)
• U.S. Patent Application No. 11/665,944 filed 20 Apr 2007 (HHS Reference No. E-263-2004/0-US-03)

Inventors:

Qin Yang and Curtis C. Harris (NCI)

Licensees Sought:

Available for exclusive and non-exclusive licensing.

Collaborative Research Opportunity:

The National Cancer Institute Laboratory of Human Carcinogenesis is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize biomarkers of colon cancer.  Please contact John D. Hewes, Ph.D. at 301-435-3121 or hewesj@mail.nih.gov for more information.