Article
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing.
BMC medical genomics - 22 Jun 2021
Davila Jaime I, Chanana Pritha, Sarangi Vivekananda, Fogarty Zachary C, Weroha S John, Guo Ruifeng, Goode Ellen L, Huang Yajue, Wang Chen
Abstract excerpt
BACKGROUND: DNA polymerase epsilon (POLE) is encoded by the POLE gene, and POLE-driven tumors are characterized by high mutational rates. POLE-driven tumors are relatively common in endometrial and colorectal cancer, and their presence is increasingly recognized in ovarian cancer (OC) of endometrioid type. POLE-driven cases possess an abundance of TCT > TAT and TCG > TTG somatic mutations characterized by...
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