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

We characterized the of hotspot exonuclease domain mutations in the DNA polymerase ϵ gene and identified P286R, V411L, R375Q, and P452L as pathogenic hotspot EDMs in endometrial cancer. These hotspot EDMs are associated with the malignant behavior of endometrial cancer cells and favorable prognosis in patients, suggesting that affects a wide range of cellular processes beyond DNA replication and proofreading.