Titles and Affiliations

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

Research area

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


The molecular make-up and clinical behavior of rare subtypes of breast cancer are often distinct from those of more common subtypes. Little is known about rare "special types" of breast cancer which account for up to 25 percent of all invasive breast cancers. Dr. Reis-Filho’s research focuses on defining the genetic drivers that promote the growth of these rare forms. Specifically, his team is investigating the basis for the aggressiveness and poor response to chemotherapy of one rare type of breast cancer, metaplastic breast cancer. The results of his studies have the potential to identify new molecular targets to tailor the treatment for these patients. 

Progress Thus Far

Dr. Reis-Filho and his team have found that some rare forms of breast cancer differ from more common forms in their epigenetic alterations—the way genes are switched on and off. However, in metaplastic breast cancers, a rare type of triple-negative breast cancer, epigenetic alterations do not explain their resistance to treatment with chemotherapy and PARP inhibitors. His research has revealed that metaplastic breast cancers have unexpected defects in the way the cancer cells repair their DNA—this may be associated with its agressiveness and resistance to therapies. They have initiated the whole-genome sequencing of 33 metaplastic breast cancers, including the so-called junk (non-coding) DNA, to determine if genetic alterations affecting non-coding regions of the genome could be drivers of metaplastic breast cancers.

What’s next

They will continue characterizing the underlying genetic basis for DNA repair defects in metaplastic breast cancers and determining optimal ways to target them. Several lines of evidence demonstrate that DNA repair defects in human cancers have a profound impact on the interactions between cancer cells and the immune tumor microenvironment. Since these interactions could influence the response to immune checkpoint blockade (ICB) therapy, Dr. Reis-Filho and his colleagues will conduct parallel studies to characterize the cellular composition of the immune tumor microenvironment, specifically regarding how they may mediate the response of metaplastic breast cancers to ICB. 


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 American Research & Development and Manufacturing Award

Areas of Focus