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.
An average 10% of all cancers are due to strong alterations in genes which predispose individuals to multiple cancers, often at young ages, and that can be inherited and passed on to their children. We are all born with our genes, whether “good” ones or “bad” ones. Scientists estimate that an individual is born with an average of 6 “bad” genes that predispose to serious illness, such as cancer. Our lab carries out patient-relevant research to increase genetic and genomic information resulting in intimate knowledge of our genes which allows creation of a roadmap for prevention, leading to graceful aging. Our cancer genetics and genomics research fulfills the adage “Knowledge is Power” in empowering us to promote our own and our families’ health and well-being.
|US Patent||Patent Title||Issue Date||First-Named Inventor|
|8,206,910||Targets for use in diagnosis, prognosis and therapy of breast cancer||June 26, 2012||Charis Eng, MD, PhD|
|8,163,493||Targets for use in diagnosis, prognosis and therapy of cancer||April 24, 2012||Charis Eng, MD, PhD|
|7,670,775||Method for differentiating malignant from benign thyroid tissue||March 2, 2010||Charis Eng, MD, PhD|
|6,649,359||Diagnosis of endometrial precancers||November 18, 2003||Charis Eng, MD, PhD|
Assié G, LaFramboise T, Platzer P, Eng C. High frequency of germline genomic homozygosity associated with cancer cases. JAMA 2008; 299:1437-45
Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndromes. JAMA 2010; 304:2724-31
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3,042 probands. Am J Hum Genet 2011; 88:42-56
Ni Y, He X, Chen JL, Moline J, Mester J, Orloff MS, Ringel MD, Eng C. Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependent destabilization of p53. Hum Mol Genet 2012; 21:300-10.
Doerr M, Eng C. Personalised care and the genome. BMJ 2012; 344:e3174