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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

Goal: To improve the molecular classification and accuracy of diagnosis of rare, poorly understood types of breast cancers.

Impact: Dr. Reis-Filho has found that two rare forms of breast cancer differ from more common forms of the disease in the way genes are switched on and off (epigenetic alterations). Greater understanding of the genetic drivers of these rare tumors could lead to more accurate diagnoses and the development of targeted therapies.

What’s next: He and his colleagues will use cutting-edge technologies to investigate the genetic alterations of additional rare breast cancers that could not be defined using other approaches.

Breast cancer is a group of diseases, several of which have defined genetic drivers. However, far less is known about the mechanisms of many rare forms of the disease, which collectively account for up to 25 percent of all invasive breast cancers. Dr. Reis-Filho is investigating the molecular makeup of these rare breast cancers so that affected patients may ultimately receive more precise diagnoses and researchers can develop tailored treatments.

Full Research Summary

Research area: Understanding the genetic drivers of rare forms of breast cancer, which scientists currently know very little about.

Impact: While the genetic drivers of several types of breast cancer are understood, traditional genetic approaches have resulted in identification of the drivers of only a few rare breast cancer types. Dr. Reis-Filho aims to molecularly classify more of these rare breast cancers, which could help identify new molecular targets to tailor the treatment of these patients.

Current investigation: He and his team are analyzing the entire genome and the biological mechanisms that switch genes on and off (called epigenetic alterations) in special types of breast cancers. 

What he’s learned so far: Dr. Reis-Filho has found that two rare forms of breast cancer differ from the common forms of the disease in their epigenetic alterations.

What’s next: The team will apply computational biology tools to identify the master regulators of these rare forms. They plan to investigate the interactions between their cell of origin and molecular alterations in order to define the drivers of these rare forms of breast cancer.


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