Dora Dias-Santagata, PhD, FACMG

Assistant Professor of Pathology, Harvard Medical School
Assistant Molecular Pathologist, Massachusetts General Hospital
Co-Director, Translational Research Laboratory

Center for Integrated Diagnostics
Molecular Pathology Unit
Massachusetts General Hospital
55 Fruit Street (GRJ-10)
Boston, MA 02114
Phone: 617-724-1261

Targeted cancer therapy requires the rapid and accurate identification of genetic abnormalities predictive of therapeutic response. Our lab developed the first high-throughput clinical genotyping platform designed to detect specific mutations in a broad range of human malignancies and enable prospective patient selection to the most appropriate targeted treatments. In an effort to expand the scope of therapeutic options available to each cancer patient, we improved upon our original platform by the incorporation of next generation sequencing technologies, which we continue to develop. Our goal is to obtain a more complete tumor genetic fingerprint that includes mutation status, genetic rearrangements and copy number information for a panel of hundreds of cancer genes. Our current research efforts are focused on the molecular characterization of rare tumor types, which have to date received less comprehensive attention. Our goal is to elucidate the genetic mechanisms underlying development and progression of these rare malignancies and to uncover novel diagnostic markers and activated pathways that can be targeted by currently available therapeutics. Our work led to the identification of clinically-relevant genetic alterations that may be amenable to therapeutic intervention in Merkel cell carcinoma, pleomorphic xanthoastrocytoma and salivary duct carcinoma. We have also developed extensive research collaborations with the MGH Thoracic Oncology and Endocrine Tumor teams, to uncover novel genetic drivers of disease and mechanism of acquired resistance to therapy.

Selected Publications

Bibliography of Dora Dias-Santagata via PubMed

Dias-Santagata D, Su Y, Mai P. Hoang, M.D Immunohistochemical detection of NRASQ61R mutation in diverse tumor types. Am J Clin Pathol. 2016; 145(1):29-34.

McFadden DG*, Dias-Santagata D*, Sadow PM, Lynch KD, Lubitz C, Donovan SE, Zheng Z, Le L, Iafrate AJ, Daniels GH. Identification of oncogenic mutations and gene fusions in the follicular variant of papillary thyroid carcinoma. J Clin Endocrinol Metab. 2014; 99(11):E2457-62.  *equal contribution

Nardi V, Sadow PM, Juric D, Zhao D, Cosper AK, Bergethon K, Scialabba VL, Batten JM, Borger DR, Iafrate AJ, Heist RS, Lawrence DP, Flaherty KT, Bendell JC, Deschler D, Li Y, Wirth LJ, Dias-Santagata D. Detection of novel actionable genetic changes in salivary duct carcinoma helps direct patient treatment. Clin Cancer Res. 2013; 19(2):480-90.

Nardi V, Song YC, Santamaria-Barria JA, Cosper AK, Lam Q, Faber AC, Boland GM, Yeap BY, Bergethon K, Scialabba VL, Tsao H, Settleman J, Ryan DP, Borger DR, Bhan A, Hoang MP, Iafrate AJ, Cusack JC, Engelman JA, Dias-Santagata D. Activation of PI3K signaling in Merkel cell carcinoma. Clin Cancer Res. 2012; 18(5):1227-36.

Sequist LV, Heist RS, Shaw AT, Fidias P, Rosovsky R, Temel JS, Lennes IT, Digumarthy S, Waltman BA, Bast E, Tammireddy S, Morrissey L, Muzikansky A, Goldberg SB, Gainor J, Channick CL, Wain JC, Gaissert H, Donahue DM, Muniappan A, Wright C, Willers H, Mathisen DJ, Choi NC, Baselga J, Lynch TJ, Ellisen LW, Mino-Kenudson M, Lanuti M, Borger DR, Iafrate AJ, Engelman JA, Dias-Santagata D. Implementing multiplexed genotyping of non-small cell lung cancers into routine clinical practice. Ann Oncol. 2011; 22(12):2616-24.

Dias-Santagata D, Akhavanfard S, David SS, Vernovsky K, Kuhlmann G, Boisvert SL, Stubbs H, McDermott U, Settleman J, Kwak EL, Clark JW, Isakoff SJ, Sequist LV, Engelman JA, Lynch TJ, Haber DA, Louis DN, Ellisen LW, Borger DR, Iafrate AJ. Rapid targeted mutational analysis of human tumors: a clinical platform to guide personalized cancer medicine. EMBO Mol Med. 2010; 2(5):146-58.

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