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Gene Symbol POLE
Synonyms CRCS12 | FILS | IMAGEI | POLE1
Gene Description POLE, DNA polymerase epsilon catalytic subunit, mediates proofreading activity during DNA repair and replication (PMID: 26822575, PMID: 29604063) and plays a role in genomic stability (PMID: 31747945). Somatic mutations in POLE have been identified in colorectal cancer (PMID: 29998005, PMID: 29072370), frequently in endometrial cancer (PMID: 26822575, PMID: 28795426, PMID: 30733993), and are often associated with high tumor mutational burden (PMID: 30733993, PMID: 29880869), but are less likely to be associated with DNA mismatch repair (MMR) deficiency (PMID: 30585826).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5426 12 12q24.33 NM_006231 Tumor suppressor (PMID: 30606230)
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