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Assistant Molecular Pathologist,Massachusetts General Hospital
Assistant Professor of PathologyHarvard Medical School
Co-Director, Translational Research LaboratoryMolecular Pathology Unit
Dora Dias-Santagata, PhD, is a Fellow of the American College of Medical Genetics and Genomics. She is certified by the American Board of Medical Genetics (ABMG).
Targeted cancer therapy requires the rapid and accurate identification of genetic abnormalities predictive of therapeutic response. The Translational Research Laboratory has sought to establish a large-scale, high-throughput genotyping platform to uncover specific mutations in a broad range of human malignancies. We focused on identifying abnormally activated signaling pathways that render tumors susceptible to currently available targeted therapeutics, to allow for prospective patient selection to the best existing treatments. We have developed a highly sensitive multiplexed clinical assay that performs very well with nucleic acid derived from FFPE tissue, and tests for 120 previously described mutations in 13 cancer genes. Using this system, we have recently profiled 250 primary tumors representative of major human malignancies. Our findings were consistent with the documented mutational spectrum for oncogenes, and also identified rare events in some cancer types.
Our current research efforts are focused on the molecular characterization of rare tumor types, which have to date received less comprehensive attention. The goal of our research is to elucidate the genetic mechanisms underlying development and progression of these malignancies and to uncover novel diagnostic markers and activated pathways that can be targeted by currently available therapeutics.
Bibliography of Dora Dias-Santagata via PubMed
Center for Integrated DiagnosticsMassachusetts General Hospital55 Fruit Street - Jackson 1028ABoston, MA 02114
Phone: 617-724-1261Fax: 617-724-6974Email: firstname.lastname@example.org
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