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Cancer and its progression are characterized by dynamic changes in the genome and a number of mutations and deletions are known to be associated with the onset and progression of specific primary cancers. However, the size of chromosomal deletions and the location of their breakpoints vary greatly. This reality has severely limited the ability to efficiently diagnose and monitor metastatic disease. In addition, current methods for deletion mapping require extremely pure tumor samples. Hence, the ability to diagnose and assess patient progress remains a significant, unmet medical need.
Researchers at the University of California have developed a proprietary method to detect chromosomal gene deletions and map their breakpoints in biological samples. This method is based on the fact that a positive PCR signal can be obtained when DNA fragments otherwise too distant in the genome are brought close together by loss of nucleotides from a chromosomal region. Genomic DNA obtained from biopsy tissue is amplified by multiplex PCR and specific breakpoints can be identified by analyzing the PCR product(s) obtained. Advantages of this simple and effective detection method include:
- Exquisite sensitivity circumvents limiting need for pure tumor sample
- Reduced rate of false negative diagnoses
- Adaptable to automation
- May obviate need for expensive histological analysis
The ability to identify specific chromosomal changes in tissue biopsies provides valuable tools for:
- cancer diagnosis and progression monitoring,
- selection of efficient therapeutics while minimize undesirable side effects,
- targeted approach for drug development and
- facilitating pharmacogenetic approaches to vague disease diagnoses and therapeutic approaches.
Patents pending
Research interests can be found at: http://cancer.ucsd.edu/Research/summaries/dcarson.asp
See also:
http://invent.ucsd.edu/technology/cases/2007/SD2007-cancer.htm
Case No: SD2006-249
Keywords: Cancer, diagnostic, translocations, probes, breakpoints, test, monitor, diagnose, diagnosis, mutation, tumor, metastasis, metastatic, chromosome
Inquiries To: invent@ucsd.edu
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