Article

Comprehensive characterization of DNA polymerases driver variants using large genomic dataset

2026-08-03

Abstract excerpt

POLE or POLD1 deficiency (PPD) leads to an exceptionally high mutation burden and distinct mutational signatures that can inform immunotherapy responses. While some PPD-associated variants have been identified, many remain classified as variants of unknown significance. We analyzed 235,161 tumors across multiple datasets (GENIE, TCGA, and CPC) to develop a comprehensive catalog of PPD driver variants, using an ite...

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Literature Corpus work: a8b09e00-6abb-59d1-8865-2e9f219413cb
DOI: 10.1038/s41598-026-62150-w

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