Titles and Affiliations

May Goldman Shaw Distinguished Professor of Molecular Oncology Research
Professor of Genetics & Pathology
Lineberger Comprehensive Cancer Center
University of North Carolina
Chapel Hill, North Carolina

Research area

Using cutting-edge sequencing technologies and artificial intelligence to better understand the complexity of breast cancer and improve personalized medicine.

Impact

The goal of personalized medicine is to find the right therapy for each patient, based on the unique features driving that individual’s tumor growth. Tumors can vary widely between patients for several reasons: inherited genetic differences, mutations and genetic changes that develop during a patient’s lifetime, or the composition of the tumor microenvironment—the cells, structures, and molecules that surround a tumor and affect its progression. All contribute to the tumor’s susceptibility to therapies. Dr. Perou and his team employ a sequencing technology that analyzes genetic information from individual cells (single cell sequencing). This allows for more precise characterization of all cells, including immune cells that infiltrate the tumor, and provides a picture of which cells are present. Dr. Perou’s long-term goal is to analyze single cell sequencing data from over 100 patients with early-stage tumors (approximately 30 patients’ data thus far) and leverage this data for improving therapies and the accuracy of prognoses.

Progress Thus Far

Dr. Perou is known for developing assays which identify breast cancer subtypes, and that information is converted into a “risk score” that guides a patient’s clinical care. However, this risk score currently only applies to patients whose tumors are ER-positive and HER2-negative. Previous studies from Dr. Perou’s group established a set of genetic signatures from immune cells that could be used in prognostic risk scores for other subtypes of breast cancer, namely HER-positive and triple-negative (TNBC). Using computational methods, including artificial intelligence algorithms, the team is combining these immune signatures with existing risk scores. This analysis is ongoing but could have significant implications for the management of HER2-positive and TNBC.

What’s Next

Using the data from single cell analysis, Dr. Perou’s team can assess the diversity within tumors, where each individual cancer cell may differ from its neighbor—also known as tumor heterogeneity. They expect that patients with more heterogeneous tumors are likely to have worse outcomes. To explore this, they will evaluate tumor samples from more than 60 patients this year. The team will also investigate the role of the immune system in early-stage cancers, where immunity may play a role in holding some tumors in check, as well as in the metastatic process where immunity seems to be diminished. 

The goal of a physician is to find the right medicine for the right patient, based on the unique features driving that individual’s tumor growth.

Biography

Dr. Perou is a member of the Lineberger Comprehensive Cancer Center at UNC, and the Scientific Director of the UNC Bioinformatics Core. He received his PhD in Cellular and Molecular Biology from the Department of Pathology at the University of Utah (1996) where he cloned the human Chediak-Higashi Syndrome gene. He next performed his postdoctoral training in the laboratory of David Botstein at Stanford University (1997-2000) where he began his genomic studies of human tumors using DNA microarrays. These genomic analyses resulted in the identification of novel subtypes of human breast tumors that predict patient survival times and response to therapy. Dr. Perou's laboratory at UNC is focused on using genomics, genetics, and laboratory models to decipher the underlying biology of the molecular subtypes of breast cancer. He then uses this biological information to develop novel therapeutic strategies that are specifically targeted against each of these distinct subtypes of breast cancer.