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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.

Breast cancer is not a single disease, but a group of diseases. There are five well-characterized types of breast cancer, where we understand the genetic drivers of the disease. However, there are many rare forms of the disease, which we currently know very little about. Dr. Reis-Filho is leading studies to understand the genetic drivers of these rare breast cancers so that more accurate diagnoses can be made, and targeted therapies can be developed. 

Full Research Summary

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. Traditional genetics approaches have resulted in identification of the drivers of a few rare breast cancer types. Dr. Reis-Filho’s BCRF research is focused on understanding the genetic drivers of rare breast cancer for which little is known. 

His team is analyzing the entire genome and the biological mechanisms that switch genes on and off (called epigenetic alterations) in special types of breast cancers. They will then test the alterations in a given special type of breast cancer to see if they can transform non-malignant breast cell lines to malignant cells.

The team recently characterized three rare types of breast cancer and identified the genes that drive two of these. However, some forms of rare breast cancer types lack genetic drivers. Dr. Reis-Filho will continue these efforts over the coming year. 

This project has the potential to molecularly classify rare breast cancers, devise markers to improve the diagnosis of special types of the disease, potentially avoid under-treatment or 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.

Grid Researcher Headshot - Reis

BCRF Investigator Since


Donor Recognition

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

Area(s) of Focus