Preferred Label : POLE Exonuclease Domain Mutation;
NCIt synonyms : DNA Polymerase Epsilon, Catalytic Subunit Exonuclease Domain Mutation; DNA Polymerase Epsilon Catalytic Subunit A Exonuclease Domain Mutation; POLE1 Exonuclease Domain Mutation;
NCIt definition : A missense mutation in the POLE gene located in the region that encodes the exonuclease
domain of the DNA polymerase epsilon catalytic subunit A protein (POLE protein). These
mutations lead to defective DNA proof-reading by POLE protein during DNA replication
and have been reported in patients with colorectal carcinoma and certain subtypes
of endometrial carcinoma.;
NCI Metathesaurus CUI : CL514539;
Origin ID : C131329;
UMLS CUI : C4330920;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
