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Comparative analysis of somatic and germline polymerase proofreading deficiencies in cancer: molecular and clinical implications

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Polymerases ε and δ maintain genome integrity through exonuclease proofreading. Germline and somatic pathogenic variants (PVs) in the exonuclease domain (ED) of POLE and POLD1 impair proofreading, causing hypermutated tumors. Despite shared mutational featur... ...