Charis Eng, MD, PhD
Sondra J. and Stephen R. Hardis Endowed Chair in Cancer Genomic Medicine
Lerner Research Institute,
9500 Euclid Avenue, Cleveland, Ohio 44195
Using multidisciplinary approaches, the Eng lab identifies and characterizes genes that cause susceptibility to inherited cancer syndromes, determines their role in sporadic carcinogenesis and performs molecular epidemiologic analyses as they relate to clinical applications. Using this framework, the lab examines PTEN and SDH in Cowden syndrome, which has a high risk of breast, thyroid and endometrial cancers, and SDH-related heritable neuroendocrine neoplasias. The lab examines PTEN, encoding a dual specificity phosphatase on 10q23.3, in Cowden and other hamartoma syndromes, as well as in isolated cancers. The lab pursues diverse mechanisms of PTEN inactivation for various sporadic cancers, including those of the breast and thyroid. Eng lab researchers explore gene-gene interactions and gene-environment interactions as relevant to ultimate clinical outcome. As such, a major focus of the Eng lab is to utilize multi-disciplinary approaches -- genomic modifiers, immune, microbiome, interrogation of cell fate and cellular phenotype, mouse models, etc.-- to dissect the mechanism of PTEN alterations leading to cancer predisposition or to the seemingly disparate autism spectrum disorder. This aim of this fundamental research is to not only resolve the mechanism, but also to identify novel targets for therapy and prevention.
An average 10% of all cancers are due to strong alterations in genes that predispose individuals to multiple cancers, often at young ages, and that can be inherited and passed on to their children. Everyone is born with 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. The Eng lab carries out patient-relevant research to increase genetic and genomic information resulting in intimate knowledge of human genes, which allows the creation of a roadmap for prevention and can lead to graceful aging. The Eng lab’s cancer genetics and genomics research fulfills the adage “Knowledge is Power,” empowering patients to promote health and well-being for themselves and their families.
A study led by Dr. Eng suggests that patients with PTEN hamartoma tumor syndrome may require less frequent thyroid cancer surveillance than current guidelines recommend.
The VeloSano Trainee Dream Experiment Fellowship and Caregiver Catalyst Grant program have provided the trainees with funding to pursue their novel cancer research projects.
Dr. Sarn was recognized for his significant contributions to the fields of developmental biology and embryology during their graduate program at Case Western Reserve University.
Dr. Eng and colleagues conducted a multi-center analysis of skin findings in patients with PTEN hamartoma tumor syndrome.
Dr. Eng’s team found that distinct metabolite profiles may be associated with either cancer or autism spectrum disorder and/or developmental delay in individuals with PTEN hamartoma tumor syndrome.
Led by Drs. Keri and Eng, the center will support a multi-investigator research team focused on discerning the role of the tumor microenvironment in breast cancer progression.
Drs. Eng and Sarn were recognized for their outstanding achievements.
A preclinical study led by Dr. Eng indicates that maternal genetics alone may contribute to increased risk for autism spectrum disorder in offspring.
Dr. Eng has received a Caregiver Catalyst Grant to assess the efficacy and safety of the current COVID-19 mRNA vaccines in individuals with cancer or a high genetic susceptibility to cancer due to heritable PTEN mutations.
Dr. Cheng and Ms. Castrillon Lal received the Gilliam Fellowship for Advanced Study, and Dr. Smith received the MOSAIC Postdoctoral Career Transition Award to Promote Diversity.
Dr. Eng and colleagues found that breastfeeding is associated with a reduced risk of ovarian cancer among women with BRCA1 or BRCA2 mutations.
Dr. Eng and colleagues found that the breast microbiome may modulate local immune responses that lead to breast cancer.
These awards provide Drs. Eng, Lal and Lesmana with seed funding for their highly innovative and potentially impactful cancer research projects.
A pilot study led by Dr. Eng suggests that the gut microbiome may contribute to the development of autoimmune diseases and immune dysregulation in patients with PTEN hamartoma tumor syndrome.
In collaboration with Dr. Eng, Dr. Lundy and colleagues compared the microbiomes of infertile and fertile men and identified several bacterial and metabolic pathway differences that may help diagnose and treat male infertility.
With this award, Takae Brewer, MD, aims to provide further insight into the genomics of breast cancer development, invasion and metastasis in the context of PTEN hamartoma tumor syndrome.
Sara Akhavanfard, MD, PhD, and Abigail Dooley were recognized for their outstanding scientific achievements.
Dr. Eng’s team will sequence the genomes of patients with PTEN hamartoma tumor syndrome to determine if and how changes in non-coding regions of the genome affect clinical outcomes.
A study co-led by Drs. Eng and Pandolfi identified why patients without PTEN mutations may still experience the high cancer risk associated with PTEN hamartoma tumor syndrome.
Germline Genomic Profiles of Children, Adolescents and Young Adults with Solid Tumors Inform Management and Treatment
Researchers led by Dr. Eng conducted the largest-to-date evaluation of germline mutations in children, adolescents and young adults with solid tumors and demonstrated the value of genetics evaluation and genetic testing for this patient population.
Dr. Lamis Yehia was named the first place winner in the clinical category.
In Dr. Eng’s latest study, she discovered why some patients with mutations to the PTEN gene present with cancer while others with the same mutation present with autism spectrum disorders.