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Interpretation 2255
Tier 1
POLE
Variants
POLE P286R
Primary Sites
Colon
Rectum
Endometrium
Tumor Types
Adenocarcinoma
Interpretation

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal and endometrial cancer. P285R is the most common recurrent mutation of POLE in those types of cancers. Somatic POLE mutation is associated with approximately 3% of sporadic microsatellite-stable (MSS) but hypermutated CRCs.

Citations
  1. Campbell BB, et al. Comprehensive Analysis of Hypermutation in Human Cancer. Cell 2017;171(5):1042-1056.e10
Last updated: 2018-06-04 13:47:30 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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