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BCRF Grantee Since


Donor Recognition

The von Mandl Family Award

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
Cleveland, Ohio

Current Research

Inherited mutations in the PTEN and SDHx tumor-suppressing (cancer fighting) genes are common in individuals and families with Cowden syndrome (CS), a disease characterized by multiple non-cancerous, tumor-like growths. CS patients with PTEN or SDHx mutations have an increased risk of many cancers including breast cancer. Those with both PTEN and SDHx alterations have a significantly higher risk of breast cancer compared to those with either PTEN or SDHx mutations alone. Dr. Eng’s laboratory was the first to associate PTEN mutation with CS and is now working to find out how and why variations in SDHx genes add to the breast cancer risk of PTEN mutation. Her studies have shown that SDHx is likely interfering with the cancer-fighting functions of PTEN through a combination of effects that collectively stimulate signals for breast cell growth and ultimately, cancer. Her current BCRF studies seek to identify these mechanisms, which will provide risk assessment and predictive information to aid in the prevention and management of breast cancer. In addition, her laboratory also discovered that an alteration in another gene called KLLN can modify the risk of cancer in patients with PTEN mutation and they are currently studying how KLLN works, while using cutting-edge approaches to search for other modifiers of breast cancer risk in PTEN mutation-positive CS without SDHx/KLLN-alterations. This work will impact cancer risk assessment and medical care by providing a more precise prediction model of breast cancer risk in patients with CS.


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.