Characterization of hotspot exonuclease domain mutations in the DNA polymerase ϵ gene in endometrial cancer.

ABSTRACT:

Objective

This study was aimed to profile hotspot exonuclease domain mutations (EDMs) of the DNA polymerase ϵ gene (POLE) in endometrial cancer (EC) and to investigate the effects of EDMs on tumor cell behavior and catalytic activities of Polϵ.

Methods

POLE sequencing was performed in tumor tissue samples from patients with EC to identify hotspot EDMs. Bioinformatics tools were used to select the potential pathogenic EDMs. The association of EDMs with the clinical outcomes of patients was assessed. EC cells were transfected with wildtype POLE or POLE variants to examine the effects of the EDMs on EC cell behavior, including cell cycle, migration, and invasion. Co-immunoprecipitation was employed to obtain FLAG-tagged wildtype and mutant catalytic

SUBMITTER: Tian W 

PROVIDER: S-EPMC9596989 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature