Charis Eng, MD, PhD
Chair, Genetics and Genome Sciencesengc@ccf.org 216.444.3440 (o) 216.636.0655 (f)
Member, Cancer Prevention, Control and Population Research Program
We use multidisciplinary approaches to identify and characterize genes which cause susceptibility to inherited cancer syndromes, to determine their role in sporadic carcinogenesis and to perform molecular epidemiologic analyses as they relate to clinical applications. Upon this framework, we are examining PTEN and SDH in Cowden syndrome, which has a high risk of breast, thyroid and endometrial cancers, and SDH-related heritable neuroendocrine neoplasias. PTEN, encoding a dual specificity phosphatase on 10q23.3, is being examined in Cowden and other hamartoma syndromes and isolated cancers. Diverse mechanisms of PTEN inactivation are being pursued for various sporadic cancers, including those of the breast, thyroid and endometrium. Gene-gene interactions and gene-environment interactions are being explored. Functional studies are performed to understand the non-traditional mechanisms of somatic PTEN inactivation in breast cancer, chief of which involves nuclear-cytoplasmic trafficking. This fundamental research is aimed at not only mechanism resolution but also hopes to identify novel targets for therapy and prevention. The role of genetic alterations in the microenvironment of sporadic and heritable breast carcinomas and other solid tumors are being examined as they relate to clinical outcome. This may have broad implications not only for pathogenesis but may reveal novel compartments germane for diagnosis, prognosis, therapy and prevention. Finally, the Eng lab is searching for Barrett esophagus-predisposing genes.