Genomic analyses in large cohorts of patients with cancer identify a new measure of tumor mutational burden, based on genomic regions that are unlikely to undergo loss, that is associated with therapeutic response to immunotherapy ValsamoA NoushinNiknafs
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.We hypothesized that tumors with a higher frequency of sequence alterations in either haploid regions or in multiple copies would be intrinsically incapable of escaping immune recognition in the setting of immunotherapy, as these alterations would continuously render them visible to the immune system, resulting in sustained tumor rejection.
A weak to moderate degree of correlation was observed between the fraction of clonal mutations and the number of persistent mutations or multi-copy mutations across the 31 TCGA tumor types analyzed. Notably, the number of only-copy mutations was anti-correlated with the fraction of clonal mutations in the TCGA dataset . Spearman’s rank correlation coefficients are depicted in the heatmap.
Extended Data Fig. 6 Assessment of genomic characteristics of loci harboring persistent vs loss-prone mutations in TCGA tumors.
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