Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition

Pediatric Blood & Cancer
Giovanni PaganoFederico V Pallardó

Abstract

The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critical analysis of the literature prompts revisiting the FA phenotype and crosslinker sensitivity in terms of an oxidative stress (OS) background, redox-related anomalies of FA (FANC) proteins, and mitochondrial dysfunction. This re-appraisal of FA basic defect might lead to innovative approaches both in elucidating FA phenotypes and in clinical management.

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Citations

Feb 28, 2017·Cell & Bioscience·Anna PalovcakYanbin Zhang
Jan 30, 2019·Proceedings of the National Academy of Sciences of the United States of America·Samuel B SondalleSusan J Baserga
Jan 31, 2021·Communications Biology·Philippe FernandesValeria Naim

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