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Peter Kabos, MD, and his colleagues at the University of Colorado Anschutz Medical Campus have identified a way to analyze blood plasma to extract critical breast tumor and disease progression information instead of using more invasive tissue biopsies.  Recently published in Science Advances, Dr. Kabos is senior co-author of this study, which found that plasma cell-free DNA (cfDNA) contains high resolution, genome-wide binding estrogen receptors (ER) and FOXA1 profiles for breast cancer. FOXA1 is a gene associated with breast cancer. 

"This is simply a blood draw, this allows us to look under the surface to see the defining characteristics of the disease.  The advantage is that we don't need to do repeated tissue biopsies"

Plasma can be analyzed to define gene mutations in cancer with DNA found in plasma containing much more information, “we just need to know where to look" says Dr. Kabos.  Because the same molecular information that comes from tissue biopsies can be obtained directly from the blood, researchers are optimistic this will allow them to provide more information for treatment decisions.  

Dying cells in the human body release their content into the bloodstream and when cancer is present, it also releases fragments of cfDNA into plasma.  According to the study, this suggests that cfDNA has the potential to help uncover the regulatory landscape of cancer from plasma.  These findings are incredibly promising as they could lead to a genome-wide map for defining disease state, predicting treatment outcome and perhaps choosing the most effective cancer therapy.  This study has leveraged an alternate means to obtain the same information in a minimally invasive manner to define underlying disease biology.  

Dr. Kabos and his colleagues are optimistic that the information gleaned from the DNA of cancer could be used to develop new therapies in the future with the same plasma analysis used in breast cancer potentially working with other malignancies.