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Charis Eng, MD, PhD, FACP
Chairwoman, Genomic Medicine Institute, Cleveland Clinic
American Cancer Society Clinical Research Professor
Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine
Professor and Vice Chair, Department of Genetics
Case Western Reserve University
Goal: To identify specific factors that can predict those at highest genetic risk for breast cancer.
Impact: Dr. Eng is identifying factors that are associated with mutations in the tumor suppressor gene PTEN which increase the risk of developing certain cancers, including breast cancer. Her work will facilitate the personalization of breast cancer care at all stages –diagnosis, genetic counseling, cancer risk assessment, prevention, and treatment.
What’s next: She and her team will characterize candidate breast cancer susceptibility genes they have discovered.
BRCA1 and BRCA2 are the most commonly mutated genes implicated in hereditary breast cancer, but mutations in other genes also predispose individuals to the disease. Mutations in the tumor suppressor gene PTEN have been associated with an elevated risk of breast cancer, however, there is currently no way to predict which PTEN carriers will eventually develop breast cancer. Dr. Eng is identifying factors that increase or decrease the risk conferred by PTEN mutations to personalize breast cancer care.
Full Research Summary
Research area: Identifying and characterizing biological factors that are associated with genetic mutations that increase breast cancer risk.
Impact: The PTEN gene has been identified as a tumor suppressor gene which, when mutated or dysregulated, increases the risk of several cancers including breast cancer. PTEN mutations confer an 85 percent lifetime risk of developing breast cancer. Currently, there is no way to predict which PTEN carriers will eventually develop breast cancer. Dr. Eng and her colleagues are focused on determining the factors associated with mutations in the PTEN gene and their role in hereditary breast cancer risk. Their findings may lead to the identification of novel targets for prevention and therapy in this high-risk group.
Current investigation: She and her colleagues are employing a multi-faceted approach to identify and characterize factors associated with PTEN mutations which may accurately predict which carriers of these alterations will develop breast cancer.
What she’s learned so far: Dr. Eng and her team have shown that alterations in energy-associated genes specifically SDHx (succinate dehydrogenase gene) together with PTEN mutations confer a higher risk of breast cancer than mutations in either gene alone. In fact, they have reported that among PTEN mutation carriers, variations in the SDHx gene raise breast cancer risk to almost 100 percent. In the last year, Dr. Eng’s team discovered five candidate susceptibility genes in patients harboring PTEN/SDHx mutations including one gene that regulates PTEN. They have identified WWP2 as one of these candidate genes and will conduct further studies to functionally characterize it.
What’s next: This year, the team will continue to characterize the WWP2 gene and its role in breast cancer risk. They will also study breast cancer-risk modifiers in PTEN mutation carriers and delve deeply into the metabolite imbalances in PTEN-associated breast cancer that may provide biomarkers and potential therapeutic targets.
Charis Eng, MD, PhD is the founding Chair of the Genomic Medicine Institute at the Cleveland Clinic, founding Director of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. She was honored with the Hardis Endowed Chair in Cancer Genomic Medicine in 2008 and the American Cancer Society Clinical Research Professorship in 2009. In 2011, she was elected to the Institute of Medicine of the US National Academies of Sciences for her achievements and leadership in genetics- and genomics-based research and personalized healthcare. Her research has been acknowledged as the paradigm for performing cancer genetics research which can be brought to clinical practice. At the clinical interface, she is acknowledged as one of the rare "go to" people on what is and how to implement genetic- and genomics-enabled personalized healthcare.