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POLE P286R
GenePOLE
Variantmissense
Amino Acid ChangeP286R
Transcript ID (GRCh37/hg19)ENST00000320574
Codon286
Exon9
Genomic Coordinates (GRCh37/hg19)12:133253184-133253184
COSMIC ID937333
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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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.

Last updated: 2018-06-04 13:47:30 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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