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Jorge Reis-Filho, MD, PhD, FRCPath

Chief, Experimental Pathology Service
Attending Pathologist, Department of Pathology
Affiliate Member, Human Oncology and Pathogenesis Program
Memorial Sloan Kettering Cancer Center
New York, New York

Current Research

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

Impact: Dr. Reis-Filho has found that rare forms of breast cancer differ from more common forms of the disease in the way genes are switched on and off. 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 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 rare breast cancers to identify the basis for their aggressiveness and poor response to treatments. His studies will lead to more precise diagnosis and development of tailored treatments for these patients

Full Research Summary

Research area: Understanding the genetic drivers of rare forms of breast cancer to improve the accuracy of diagnosis and to develop novel treatment approaches. 

Impact: The molecular make-up and clinical behavior of rare types of breast cancer are often distinct from those of common-type breast cancers. Little is known about the rare “special types” of breast cancer particularly the genetic drivers that promote their growth. While Dr. Reis-Filho’s research has provided valuable information on the gene alterations that drive a subset of these rare tumors, the disease-defining genetic alterations for other rare types have not been found. He is refining the classification of breast cancers further and specifically investigating the basis for the aggressiveness and poor response to chemotherapy of a rare type of breast cancer called metaplastic breast cancer. The results of his studies have the potential to identify new molecular targets to tailor the treatment for these patients.

Current investigation: Utilizing cutting-edge technologies to sequence the entire genome of metaplastic breast cancer tumors to understand the patterns of DNA repair defects these tumors harbor and to define optimal ways of targeting these DNA repair defects.

What he’s learned so far: Dr. Reis-Filho and his team have found that rare forms of breast cancer (mucinous breast cancers) differ from more common forms of breast cancer in their epigenetic alterations – how genes are switched on, and off. One of these forms, metaplastic breast cancer, is a rare type of triple-negative breast cancer and has been shown to be resistant to treatment with chemotherapy and PARP inhibitors. Moreover, this form has unexpected patterns of defects in the way the cancer cells repair their DNA. 

What’s next: Dr. Reis-Filho and his colleagues will conduct whole genome sequencing of these tumors, including the so-called junk DNA, to understand the patterns of DNA repair defects these tumors harbor. They will also utilize laboratory models to define the optimal ways of targeting these DNA repair defects. The results of this project will advance the field of breast cancer, definitively determining the molecular basis of metaplastic breast cancers, and providing a rationale for the treatment of patients with these tumors using specific DNA repair inhibitors.


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