Distinctive genomic characteristics in POLE/POLD1-mutant cancers can potentially predict beneficial clinical outcomes in patients who receive immune checkpoint inhibitor

Abstract

We delineated distinctive genomic characteristics in <i>POLE/POLD1</i>-mutant tumors, suggesting the potential predictive role of <i>POLE/POLD1</i> mutations, especially those in the proofreading domain, for beneficial outcomes of immunotherapy. Our results also suggest that MSI caused by a loss-of-function mutation in the MMR pathway tends to result from <i>POLE/POLD1</i> proofreading deficiency in <i>POLE/POLD1-</i>mutant tumors with MSI.