POLE Exonuclease Domain Mutation

**Semantic type:** Cell or Molecular Dysfunction

**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.

**Synonyms:** - DNA Polymerase Epsilon Catalytic Subunit A Exonuclease Domain Mutation - DNA Polymerase Epsilon, Catalytic Subunit Exonuclease Domain Mutation - POLE1 Exonuclease Domain Mutation