Basic information
Biomarker: POLE
Biomarker subtype: gene
Clinical application: prognosis(favorable)
Histology type: endometrioid endometrial carcinoma
Stage: grade 3
Cohort characteristics
Country: Canada.
Followed up time : median follow-up 33 months
Total number | Group I | Group I number | Group II | Group II number | Group III | Group III number | Group IV | Group IV number |
---|---|---|---|---|---|---|---|---|
99 | EC | 99 |
Sample information
Sample type : tissue
Clinical method: Sanger sequencing
Expression pattern : exonuclease domain mutations
Disease information
Related information
Description: POLE exonuclease domain mutations occur in a subset of grade 3 endometrioid endometrial carcinomas and are associated with good clinical outcome. It can serve as an important prognostic molecular marker to guide the management of patients with grade 3 endometrioid endometrial carcinomas.
Approved symbol: POLE
Approved name: DNA polymerase epsilon, catalytic subunit
Locus type: gene with protein product
HGNC ID: HGNC:9177
HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9177
Symbol status: Approved
Previous symbols: polymerase (DNA directed), epsilon polymerase (DNA) epsilon, catalytic subunit
Alias symbols: POLE1
Alternative gene group name: DNA-directed DNA polymerases", "Polymerases, DNA directed
OMIM: 174762
Omim link: https://www.omim.org/entry/174762
NCBI name: 5426
NCBI link: https://www.ncbi.nlm.nih.gov/gene/5426
Summary: 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 cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] Expression Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues
Expression: Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues
NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/5426#gene-expression
PDB ID: Q07864
PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index/?searchParams=%7B%22q_uniprot%22:%5B%7B%22value%22:%22(Q07864)%22,%22condition1%22:%22AND%22,%22condition2%22:%22Contains%22%7D%5D,%22resultState%22:%7B%22tabIndex%22:0,%22paginationIndex%22:1,%22perPage%22:%2210%22,%22sortBy%22:%22Sort%20by%22%7D%7D
Source description: MIRNA
Term ID: MIRNA:hsa-miR-4790-5p
Term name: hsa-miR-4790-5p