Biography
Dr. Charis Eng is the Chair and founding Director of the Genomic Medicine Institute of the Cleveland Clinic Foundation, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairman of the Department of Genetics at Case Western Reserve University School of Medicine. She holds a joint appointment as Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine and is a full member of Cleveland Clinic’s Taussig Cancer Center and a member of the CASE Comprehensive Cancer Center. She was recently honored by the designation National Scholar of the Davis Heart and Lung Research Institute of The Ohio State University, and continues to hold an honorary appointment at the University of Cambridge. Dr. Eng’s research interests may be broadly characterized as clinical cancer genetics translational research. Her work on RET testing in multiple endocrine neoplasia type 2 and the characterization of the widening clinical spectra of PTEN gene mutations have been acknowledged as the paradigm for the practice of clinical cancer genetics.
Dr. Eng grew up in Singapore and Bristol, UK and entered the University of Chicago at the age of 16. After completing an MD and PhD at its Pritzker School of Medicine, she specialized in internal medicine at Beth Israel Hospital, Boston and trained in medical oncology at Harvard’s Dana-Farber Cancer Institute. She was formally trained in clinical cancer genetics at the University of Cambridge and the Royal Marsden NHS Trust, UK, and in laboratory-based human cancer genetics by Bruce Ponder, MB, PhD At the end of 1995, Dr. Eng returned to the Farber as Assistant Professor of Medicine, and in January, 1999 was recruited by The Ohio State University as Associate Professor of Medicine and Director of the Clinical Cancer Genetics Program. In 2001, she was honored with the conferment of the Davis Professorship and appointed Co-Director of the Division of Human Genetics in the Department of Internal Medicine. In 2002, she was promoted to Professor and Division Director, and was conferred the Klotz Endowed Chair. She moved to the Cleveland Clinic in September 2005. Dr. Eng has published over 230 peer reviewed original papers in such journals as the New England Journal of Medicine, Lancet, JAMA, Nature Genetics, Nature and Molecular Cell. She has received numerous awards and honors including election to the American Society of Clinical Investigation, the Association of American Physicians and as Fellow of AAAS, the Doris Duke Distinguished Clinical Scientist Award and named a Local Legend from Ohio bestowed by the American Medical Women’s Association in conjunction with the U.S. Senate on women physicians who have demonstrated commitment, originality, innovation and/or creativity in their fields of medicine. Dr. Eng is the 2005 recipient of the ATA Van Meter Award at the 13th International Thyroid Conference, November 2005, and will be the recipient of the 2006 Ernst Oppenheimer Young Investigator Award of The Endocrine Society. She was the North American Editor of the Journal of Medical Genetics from 1998 to 2005, is Senior Editor of Cancer Research and Associate Editor of the Journal of Clinical Endocrinology and Metabolism. Dr. Eng has recently been elected to the Board of Directors of the American Society of Human Genetics.
Abstract
Genetics of PTEN and Molecular-Based Patient Care
Tumor suppressors act like automobile brakes to prevent cell overgrowth. Our project utilizes a single model tumor suppressor gene called PTEN as a model for translating laboratory discoveries to evidence-based patient care. Germline gene mutations represent faults or alterations in DNA, which is the stuff of genes. Germline mutations of PTEN cause Cowden syndrome (CS). CS which was believed to be rare, is actually under-recognized particularly by non-cancer genetics professionals and therefore, diagnoses are not made. This is rather dangerous because CS is a hereditary condition characterized by breast and thyroid cancers and perhaps cancer of the uterus.
Because PTEN-associated CS is so difficult to recognize the first objective of our study is to statistically and genetically model the clinical features of over 1000 patients with features reminiscent of CS so that the fewest and most parsimonious features may be objectively identified. Identifying these features will help primary caregivers identify such individuals for purposes of referral to cancer genetics professionals.
It is not known if women with only breast cancer and no obvious features of CS might have unsuspected germline PTEN mutations. Therefore, the second objective of our study is to examine a large population-based series of women diagnosed with breast cancer to see what proportion of such women have germline PTEN mutations. Having germline PTEN mutations would not only put them at increased risk of other cancers, but also has implications for their families.
Somatic gene mutations are present only in cancer cells and cannot be inherited. Because somatic mutations of PTEN have been described in sporadic (not familial, not genetic) breast tumors, our third objective is to seek out and characterize non-traditional, non-genetic alterations of PTEN as new targets of therapy and prevention.