Prognosis and treatment response stratification according to loss of proofreading (LOP) <i>POLE</i> variants.

ABSTRACT:

Background

Only a subset of polymerase epsilon (POLE) mutations is associated with hypermutant phenotype; we hypothesized that only loss-of-proofreading (LOP) POLE mutations are associated with favorable immunotherapy response.

Methods

This retrospective cohort study included a pan-cancer cohort of 69,223 patients from cBioPortal and a cohort of patients with 41 POLE mutant metastatic colorectal (CRC) treated with immunotherapy at the MD Anderson Cancer Center between January 2017 and May 2023. We evaluated prognosis according to POLE mutation functionality.

Results

In the pan-cancer cBioPortal cohort (n=69,223) POLE was mutated in 2.8% (1,965) of tumors; of these, only 7.5% (n=148) had LOP POLE mutations (0.0% of entire cohor

SUBMITTER: Maddalena G 

PROVIDER: S-EPMC12636876 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature