Metabolic Drivers in Hereditary Cancer Syndromes

Marco Sciacovelli*, Christina Schmidt, Eamonn R. Maher, Christian Frezza

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Cancer is a multifaceted disease in which inherited genetic variants can be important drivers of tumorigenesis. The discovery that germline mutations of metabolic genes predispose to familial forms of cancer caused a shift in our understanding of how metabolism contributes to tumorigenesis, providing evidence that metabolic alterations can be oncogenic. In this review, we focus on mitochondrial enzymes whose mutations predispose to familial cancer, and we fully appraise their involvement in cancer formation and progression. Elucidating the molecular mechanisms that orchestrate transformation in these diverse tumors may answer key biological questions about tumor formation and evolution, leading to the identification of new therapeutic targets of intervention.

Original languageEnglish
Pages (from-to)77-97
Number of pages21
JournalAnnual Review of Cancer Biology
Issue number2020
Publication statusPublished - 4 Mar 2020


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