Dora Dias-Santagata, PhD

Assistant Molecular Pathologist,
Massachusetts General Hospital

Assistant Professor of Pathology
Harvard Medical School

Co-Director, Translational Research Laboratory
Molecular 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).

Clinical Interests

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

  1. Heterogeneity Underlies the Emergence of EGFRT790 Wild-Type Clones Following Treatment of T790M-Positive Cancers with a Third-Generation EGFR Inhibitor. Piotrowska Z, Niederst MJ, Karlovich CA, Wakelee HA, Neal JW, Mino-Kenudson M, Fulton L, Hata AN, Lockerman EL, Kalsy A, Digumarthy S, Muzikansky A, Raponi M, Garcia AR, Mulvey HE, Parks MK, DiCecca RH, Dias-Santagata D, Iafrate AJ, Shaw AT, Allen AR, Engelman JA, Sequist LV.
    Cancer Discov. 2015 May 1. [Epub ahead of print]
  2. Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. Sholl LM, Aisner DL, Varella-Garcia M, Berry LD, Dias-Santagata D, Wistuba II, Chen H, Fujimoto J, Kugler K, Franklin WA, Iafrate AJ, Ladanyi M, Kris MG, Johnson BE, Bunn PA, Minna JD, Kwiatkowski DJ; LCMC Investigators. J Thorac Oncol. 2015 May;10(5):768-77.
  3. Clinical Acquired Resistance to RAF Inhibitor Combinations in BRAF-Mutant Colorectal Cancer through MAPK Pathway Alterations.
    Ahronian LG, Sennott EM, Van Allen EM, Wagle N, Kwak EL, Faris JE, Godfrey JT, Nishimura K, Lynch KD, Mermel CH, Lockerman EL, Kalsy A, Gurski JM Jr, Bahl S, Anderka K, Green LM, Lennon NJ, Huynh TG, Mino-Kenudson M, Getz G, Dias-Santagata D, Iafrate AJ, Engelman JA, Garraway LA, Corcoran RB.
    Cancer Discov. 2015 Apr;5(4):358-67. doi: 10.1158/2159-8290.CD-14-1518. Epub 2015 Feb 11.
  4. Identification of oncogenic mutations and gene fusions in the follicular variant of papillary thyroid carcinoma.
    McFadden DG, Dias-Santagata D, Sadow PM, Lynch KD, Lubitz C, Donovan SE, Zheng Z, Le L, Iafrate AJ, Daniels GH.
    J Clin Endocrinol Metab. 2014 Nov;99(11):E2457-62. doi: 10.1210/jc.2014-2611. Epub 2014 Aug 22.
  5. The prognostic impact of KRAS, its codon and amino acid specific mutations, on survival in resected stage I lung adenocarcinoma.
    Izar B, Zhou H, Heist RS, Azzoli CG, Muzikansky A, Scribner EE, Bernardo LA, Dias-Santagata D, Iafrate AJ, Lanuti M.
    J Thorac Oncol. 2014 Sep;9(9):1363-9.


Center for Integrated Diagnostics
Massachusetts General Hospital
55 Fruit Street - Jackson 1028A
Boston, MA 02114

Phone: 617-724-1261
Fax: 617-724-6974

Back to Top