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Scientists Discover New Blood Test To Diagnose Breast Cancer

Test designed to monitor epigenetic DNA changes in the blood cells could signal an early stage aggressive tumor

October is breast cancer awareness month, and so it must be fate that scientists at the Center for Translational Cancer Research (CTCR) at the Helen F. Graham Cancer Center & Research Institute of Christiana Care Health System have just discovered a potential major breakthrough in breast cancer research.

The director of the CTCR, senior scientist Jennifer Sims-Mourtada, Ph.D., developed the test with scientists from Genome Proflining LLC (GenPro).

“This simple blood test, used in combination with mammography, can be a transformative tool in the fight against breast cancer by determining whether cancer is present in the breast and whether the cancer is likely to spread.” Sims-Mourtada said. “Using this test could minimize over-diagnosis and treatment while potentially providing significant savings in healthcare related costs. Studies have shown that mammograms alone are not optimal for diagnosing all types of breast cancer.”

The test identifies an epigenetic biomarker within circulating blood cells’ DNA that are a part of the body’s immune system and is different from other diagnostic tests that target cancer tumors.

“This test is designed to monitor epigenetic DNA changes in the blood cells that could signal an early stage aggressive tumor,” Sims-Mourtada said. “We know that immune cells in the blood react differently if they are all responding to an infection versus a cancer, an invasive tumor or when there is no cancer present at all.”

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“Commercializing an epigenetic based diagnostic test into a simple and cost effective blood screening test can have huge implications for early intervention strategies in breast cancer,” said GenPro co-founder Adam Marsh, Ph.D. GenPro is a molecular information company that specializes in the discovery of novel epigenetic biomarkers using its genome-wide profiling platform.

“Right now there is no truly effective method for routine monitoring of patients to follow in response to treatment for breast cancer and for possible recurrence of cancer,” Sims-Mourtada said. “Using the assay we have developed, in conjunction with routine monitoring enables us to follow changes in the immune response to detect an increase in tumor cells over time. This test can allow for much earlier detection of recurrence or metastatic disease before it is visible with standard imaging and enable much earlier treatment.”

The first step towards clinical trials and FDA approval for the blood test is filing a provisional patent application with the U.S. Patent and Trademark Office, which Christiana Care and GenPro have done recently. Hopefully the new blood test will pass approval and become the new standard in which breast cancer is diagnosed; with ease and cost efficiency. In an ideal world it will drastically improve patient’s survival rates by even earlier detection and diagnosis.


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