Mourning the loss of Dr. Charis Eng

Charis Eng, MD, PhD, was the Chair and founding Director of the Genomic Medicine Institute of Cleveland Clinic, 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.

Charis Eng passed away on August 13, 2024

She contributed to the oncology community as Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine and was a member of Cleveland Clinic’s Taussig Cancer Center and of the CASE Comprehensive Cancer Center.

More recently, she was elected to the National Academy of Medicine (previously known as Institute of Medicine) of the US National Academies of Sciences for her achievements and leadership in genetics- and genomics-based research and personalized healthcare.

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 characterization of the widening clinical spectra of PTEN mutations have been acknowledged as the paradigm for the practice of clinical cancer genetics. At the clinical interface, Dr. Eng was acknowledged as one of the rare go to people on what is and how to implement genetic- and omics-enabled personalized healthcare.

Anirban Maitra shared on X:

“This week, one of the deans of germline cancer genetics Charis Eng passed away. She was the force behind research on the cancer predisposition syndrome PTEN Hamartoma Tumor Syndrome (PHTS), co-discovering the presence of germline PTEN mutations in individuals with Cowden syndrome, one of the prototypical PHTS disorders. She would also quantify the lifetime cancer risk that families with PHTS face.

‘Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome‘

Authors: Danny Liaw, Debbie J. Marsh, Jing Li, Patricia L. M. Dahia, Steven I. Wang, Zimu Zheng, Shikha Bose, Katherine M. Call, Hui C. Tsou, Monica Peacoke, Charis Eng and Ramon Parsons.

‘Lifetime Cancer Risks in Individuals with Germline PTEN Mutations‘

Authors: Min-Han Tan, Jessica L. Mester, Joanne Ngeow, Lisa A. Rybicki, Mohammed S. Orloff, Charis Eng

In addition to PHTS, Dr. Eng’s seminal studies in hereditary cancers also defined the relationship between gain of function RET mutations and the syndrome Multiple Endocrine Neoplasia type 2 (and conversely loss of function alterations in the pediatric condition known as Hirschsprung Disease):

‘The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung’s Disease‘

Author: Charis Eng

‘The Relationship Between Specific RET Proto-oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2‘

Authors: Charis Eng, David Clayton; Isabelle Schuffenecker, Gilbert Lenoir, Gilbert Cote, Robert F. Gagel, Hans Kristian Ploos van Amstel, Cornelis J. M. Lips, Isamu Nishisho, Shin-Ichiro Takai, Debbie J. Marsh, Bruce G. Robinson, Karin Frank-Raue, Friedhelm Raue, Feiyu Xue, Walter W. Noll, Cristina Romei, Furio Pacini, Monika Fink, Bruno Niederle, Jan Zedenius, Magnus Nordenskjöld, Paul Komminoth, Geoffrey N. Hendy, Hossein Gharib, Stephen N. Thibodeau, André Lacroix, Andrea Frilling, Bruce A. J. Ponder, Lois M. Mulligan.

‘RET Proto-Oncogene in the Development of Human Cancer‘

Author: Charis Eng

More recently her research had expanded to studying the role of the microbiome in human cancers. One provocative observation that Dr. Eng published in 2007 in NEJM was the presence of stromal mutations in breast cancer at a time when somatic mutations were considered exclusive to the cancer cell compartment:

‘Breast-Cancer Stromal Cells with TP53 Mutations and Nodal Metastases‘

Authors: Attila Patocs, Li Zhang, Yaomin Xu, Frank Weber, Trinidad Caldes, George L. Mutter, Petra Platzer and Charis Eng

This was a controversial observation and one of the best ‘point-counterpoints’ debates on this subject was published in Cancer Research

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Source: Anirban Maitra/X

Dr. Anirban Maitra serves as Professor of Pathology and Translational Molecular Pathology at UT MD Anderson Cancer Center since August 2013, and directs the Sheikh Ahmed Pancreatic Cancer Research Center. He leads an NCI-funded laboratory dedicated to pancreatic cancer research, focusing on genetics and molecular pathology in human and mouse models. His research aims to advance early detection and interception strategies to enhance patient survival rates in pancreatic cancer.