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A New Pot1 Variant Gene as a Diagnostic Biomarker for Hereditary Non-polyposis Colorectal Cancer

Posted Jun 30 2008 5:00pm

Description of Invention:
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.

  • 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

Development Status:
The technology is currently in the pre-clinical stage of development.

Qin Yang (NCI)
Curtis C Harris (NCI)

Patent Status:
HHS, Reference No. E-263-2004/0
US, Application No. 11/665,944 filed 20 Apr 2007

Relevant Publication:
  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 ]

Licensing Status:
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 for more information.

Cancer - Diagnostics
Cancer - Therapeutics

For Additional Information Please Contact:
Surekha Vathyam Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4076
Fax: 301-402-0220

Ref No: 1778

Updated: 07/2008

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