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POLE

HGNC:9177

Thursday 3 November 2016

WKP

Definition: DNA polymerase epsilon catalytic subunit is an enzyme that in humans is encoded by the POLE gene. It is the central catalytic subunit of DNA polymerase epsilon.

Pathology

- multiple colorectal adenoma

  • POLE, along with POLD1 , has recently been associated with multiple colorectal adenoma.

- glioblastoma

  • Glioblastoma and a Germline POLE Mutation

Open References

- GREM1 and POLE variants in hereditary colorectal cancer syndromes.
Rohlin A, Eiengård F, Lundstam U, Zagoras T, Nilsson S, Edsjö A, Pedersen J, Svensson J, Skullman S, Karlsson BG, Björk J, Nordling M.
Genes Chromosomes Cancer. 2016 Jan;55(1):95-106. doi : 10.1002/gcc.22314
PMID: 26493165 Free

- Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Guarino Almeida E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I (2013). Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas". Nat. Genet. 45 (2): 136–44. doi : 23263490" target="_blank">10.1038/ng.2503. PMID 23263490 Free