POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.

ABSTRACT:

Background

To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation. On the other hand, the spread of comprehensive genome profiling programs has underscored the need to interpret POLE variants not considered to be hotspots.

Methods

This study provides a comprehensive analysis of 596 sequenced patients with EC. The genomic landscape of POLEmut EC was compared with cases harboring nonhotspot POLE mutatio

SUBMITTER: Nero C 

PROVIDER: S-EPMC11771542 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature