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    « Great Article on Patient-Driven Genomics | Main | USA Today's Special Feature on Beating Cancer »

    Cancer-Associated Mutations Discovered in Non-Coding DNA

    A publication out of the Dana Farber Cancer Institute today identified two new cancer-associated mutations in the so-called “junk DNA” – in the promoter region of the TERT gene.  They collectively occur in 71% of melanoma patients, and the percentage of time they occur in other types of cancer is still unknown.

    This publication is a great example of why we use multiple technologies to analyze a patient's genome – the impact of this finding, as well as other similar ones yet to be discovered, is already in our analysis.  This is because the impact of these mutations is to increase the rate at which RNA associated with the TERT gene is being produced.  Because we look at RNA data directly, we can, and do, observe the increase in production of TERT directly. 

    There are likely many undiscovered promoter mutations. Since our analysis incorporates both RNA- and DNA-based technologies, the impact of such mutations is already included in our analysis – even when the mutation is rare, or perhaps unique to the patient.

    Research Abstract
    News Article