Compositions and Biomarkers for Human Cancer and Methods of Use

Invention novelty: This invention has discovered high frequency mutations in the telomerase reverse transcriptase (TERT) promoter of certain cancers.

Value Proposition:

Early detection is usually critical for the successful treatment of cancer, therefore there is a constant market need to develop novel biomarkers for diagnosis and prognosis of cancers. This current technology is advantageous;

·         As the cancer-associated TERT mutations occur at high frequency in 9 different tumor types.

·         TERT mutations were present in 66% of bladder cancers – the highest mutation frequency ever detected for bladder cancers making it an ideal diagnostic.

·         Likewise, liver cancer (44%) and gliomas (51.1%) also had very high frequencies.

Technical Details:

Johns Hopkins researchers have identified high frequency (≥15%) mutations in nine of sixty tested tumor types (tested 1230 total tumors). The nine tumor types were melanomas, liposarcomas, hepatocellular carcinomas, urothelial carcinomas, tongue squamous cell carcinomas, medulloblastomas, and gliomas. The TERT promoter mutations were found to occur mutually exclusive from cancercous mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene. ATRX encodes a telomere associating protein. Combining TERT promoter and ATRX sequencing has the potential to increase the diagnostic/prognostic capability for certain cancers.

Looking for Partners: To develop and commercialize the technology as a diagnostic, prognostic and/or therapeutic target for several cancers.

Stage of Development: Pre-Clinical

Data Availability: Under CDA/NDA

Inventors: Hai Yan, Bert Vogelstein, Nicholas Papadopoulus, Kenneth Kinzler, Yuchen Jiao, Chetan Bettegowda, Darell Bigner

Patent Status: Pending