Team co-led by Eng finds gene inactivation of PTEN drives cancer predisposition

In a new study published in the New England Journal of Medicine, researchers led by Charis Eng, MD, PhD and Pier Paolo Pandolfi, MD, PhD, FRCP determined that mutations of the WWP1 gene may also drive cancers associated with PTEN hamartoma tumor syndrome (PHTS) in patients without PTEN gene mutations. (Lee, NEJM, 2020)

"Our findings suggest that WWP1 mutations may account for at least some portion of the large percentage of these patients we see without PTEN mutations," said Dr. Eng. "Importantly, unlike PTEN, WWP1 and the cellular pathway it regulates are druggable targets, a fact that has important implications for cancer prevention and therapy and may open the door for future drug development studies."

Dr. Eng is the inaugural chair of the Genomic Medicine Institute and director of the Center for Personalized Genetic Healthcare at Cleveland Clinic. She also holds the Sondra J. and Stephen R. Hardis Endowed Chair in Cancer Genomic Medicine, is professor and vice chair of genetics and genome sciences at Case Western Reserve University and is a member of the Case Comprehensive Cancer Center’s Cancer Prevention, Control & Population Research Program. Dr. Pandolfi is professor of cancer biology and genetics at the University of Turin, Italy and Harvard Medical School.

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