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Jorge Reis-Filho, MD, PhD

Director of Experimental Pathology
Member and Attending Pathologist
Affiliate Member, Human Oncology and Pathogenesis Program
Affiliate Member, Computational Biology Center
Memorial Sloan Kettering Cancer Center
New York, New York

Current Research

  • Seeking to improve the molecular classification and accuracy of diagnosis of rare breast cancers.

  • Genetic analysis of rare breast cancers is conducted to identify the DNA alteration or other mechanisms unique to these cancers. 

  • This project has the potential to molecularly classify rare breast cancers and identify new molecular targets to tailor the treatment of breast cancer patients.

At least 21 different types of invasive breast cancer have been defined based on the size, shape, and growth pattern of the cancer cells that constitute a tumor. Tumors from each of the rare “special types” of breast cancer are much more similar to one another at the molecular level than more common ductal tumors are. Traditional genetics approaches have resulted in identification of the drivers of a few of these rare breast cancer types.

Dr. Reis-Filho’s team is analyzing the entire DNA code and the biological mechanisms that switch genes on and off (called epigenetic alterations) in special types of breast cancers for which no drivers have been identified. The alterations that are specific for a given breast cancer special type will be assessed in non-malignant breast cell lines to determine their function and impact on these cells.

The team recently characterized the landscape of molecular changes of three rare special types of breast cancer, and identified the genes that drive two of these. 

This project has the potential to molecularly classify rare breast cancers, devise markers to improve the diagnostic reproducibility of special types of the disease and potentially avoid under-treatment, over-treatment and identify actionable molecular alterations to tailor the treatment of breast cancer patients. 


Jorge S. Reis-Filho, MD PhD FRCPath holds a joint medical degree from University of Porto, Portugal and Universidade Federal do Parana, Brazil. After finishing his histopathology training at the Institute of Molecular Pathology and Immunology, University of Porto, Portugal, he did his PhD on breast cancer molecular pathology at the Breakthrough Research Centre where he was appointed Team Leader of the Molecular Pathology Laboratory in 2006. In 2007, Dr. Reis-Filho was awarded the CL Oakley Lectureship by the Pathological Society of Great Britain and Ireland and the BACR Translational Research Award. In 2010, Dr. Reis-Filho was awarded the 2010 Ramzi Cotran Young Investigator Award by the United States and Canadian Academy of Pathology and the Future Leaders Prize by Cancer Research UK. Dr. Reis-Filho is the youngest ever Fellow of The Royal College of Pathologists to have become a member by published works. In 2012, he joined the Department of Pathology of the Memorial Sloan Kettering Cancer Center in New York as an Attending Pathologist. He has published over 400 peer reviewed articles, is an associate editor of the Journal of the National Cancer Institute and the Journal of Pathology, and a senior scientific advisor for Science Translational Medicine.

Dr. Reis-Filho's research program focuses on the development of an integrated morphological and molecular classification for breast cancers by focusing on special histological types and the identification of novel therapeutic targets for specific subgroups of breast cancer patients, through an integrative analysis of data derived from pathology, massively parallel sequencing and functional genomics.

BCRF Investigator Since


Donor Recognition

The Estée Lauder Companies’ North America Manufacturing Distribution and Research and Development Centers Award

Area(s) of Focus