polymerase epsilon mutation
A specific DNA repair gene alteration associated with hypermutated tumors and enhanced immunotherapy response.
Full Definition
Polymerase epsilon (POLE) mutations affect the proofreading function of DNA polymerase epsilon, leading to defective DNA replication and extremely high tumor mutational burden. These mutations, particularly in the exonuclease domain, result in ultramutated tumors with characteristic mutation signatures. POLE-mutated cancers, most commonly seen in colorectal and endometrial cancers, demonstrate exceptional response rates to immune checkpoint inhibitors due to the high neoantigen load generated by the hypermutated phenotype.
Usage
Usage note: May be written as POLE or polymerase epsilon. The Greek letter epsilon (ε) is sometimes used in formal publications.
In Context
- "The polymerase epsilon mutation resulted in an ultramutated phenotype with TMB exceeding 100 mutations per megabase." — Molecular pathology report
- "POLE-mutated endometrial cancers demonstrate exceptional responses to checkpoint inhibitor therapy." — Clinical trial protocol