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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 understand the genetic risks that link Cowden syndrome (CS) to predisposition for breast cancer.
Impact: Dr. Eng is studying mutations in the tumor suppressor gene PTEN in CS, a disorder that increases the risk of developing certain cancers, including breast cancer. Her work will advance knowledge of the relationship between the disorder and breast cancer and may lead to the identification of novel targets for therapy and prevention.
What’s next: She and her team will conduct several studies aimed at determining which people with PTEN mutations are at the highest risk of developing breast and other cancers.
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 gene PTEN cause a rare disorder called Cowden syndrome (CS) that is associated with an elevated risk of breast cancer. Dr. Eng is using CS as a model of heritable cancer to discover ways to prevent sporadic (non-hereditary) breast cancer.
Full Research Summary
Research area: Identifying ways to prevent breast cancer by understanding what goes wrong when a powerful tumor-fighting gene is disabled.
Impact: PTEN is known as a tumor suppressor gene. When functioning properly, it prevents the uncontrolled growth cancer cells need. Cowden Syndrome (CS)—a rare syndrome that causes multiple non-cancerous, tumor-like growths—is common in people born with mutations in PTEN and another tumor suppressor gene, called SDHx. They are also at increased risk of developing several types of cancer, particularly breast cancer. Dr. Eng is studying what goes wrong when these genes are mutated in order to inform new strategies for breast cancer caused by non-heritable gene mutations.
Dr. Eng is investigating how these mutations promote breast cancer in CS patients and is also pursuing new breast cancer predisposition genes associated with the condition and others like it. Her findings may lead to the identification of novel targets for prevention and therapy in this high-risk group.
Current research: She and her colleagues have been searching for ways to accurately predict which carriers of PTEN alterations will develop breast cancer.
What she’s learned so far: Dr. Eng has discovered that in PTEN mutation carriers, SDHx variations raise a person’s breast cancer risk to almost 100 percent and that changes in energy-related pathways are associated with breast cancer but not other cancers in this group of patients. She also found six other breast cancer candidate susceptibility genes in patients harboring PTEN/SDHx mutations.
What’s next: This year, the team will study breast cancer-risk modifiers in PTEN mutation carriers and delve deeply into the metabolite imbalances in PTEN-associated breast cancer as a biomarker and potential therapeutic target.
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.