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Article

Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy

1 Mar 2021

Abstract excerpt

High tumor mutational burden (TMB) is associated with response to checkpoint blockade in several cancers. We identify pathogenic germline variants associated with increased TMB (GVITMB). GVITMB were found in 7 genes using a pan-cancer approach ( APC , FANCL , SLC25A13 , ERCC3 , MSH6 , PMS2, and TP53 ) and 38 gene sets (e.g., those involved in DNA repair and programmed cell death). GVITMB were also associated with...

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PMID: 33786423
DOI: 10.1016/j.isci.2021.102248

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