Detection of Circulating Tumor Cells Carrying the BRAF V599E Mutation

Reference #:

2004-153

Inventors/Contributors

Stefan K.G. Grebe, M.D., Ph.D., Kevin C. Halling, M.D., Ph.D., Mark R. Pittelkow, M.D., Aleksandar Sekulick, M.D., Ph.D., Ming Mai, Anne M. Rosenberg, M.D., Lori A. Erickson, M.D., Bryan McIver, M.B.Ch.B., Ph.D., Norman L. Eberhardt, Ph.D., Kendall W. Cradic

Description

A proportion of human cancers, regardless of type, contain a somatic mutation in the BRAF gene, which changes aminoacid number 599 from Valine (V) to Glutamic acid (E). This change is particularly common in melanomas and papillary thyroid carcinomas, where 30-50% of tumors carry this mutation, but it also occurs at a lesser frequency in many other human tumors. Since none of a patient's other body tissues carry this mutation, tumor spread to the blood stream, which may precede spread to other organs, can be detected by testing the blood of patients for the presence of cells that carry this mutation. We have developed a technique that allows reliable detection of such circulating tumor cells with the BRAF V599E mutation in human blood, using a method that specifically amplifies and detects only the mutated form of the gene in DNA extracted from blood. The method is applicable to all cancer patients whose original tumor (regardless of what type of tumor it was) contains this mutation.

Patent Status

Pending