POLE c.56C>G ;(p.A19G)

Variant ID: 12-133263846-G-C

NM_006231.2(POLE):c.56C>G;(p.A19G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutation Clusters from Cancer Exome.

Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15

Variant appearance in text: POLE: A19G
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Nature Genetics
Palles, Claire C; Cazier, Jean-Baptiste JB; Howarth, Kimberley M KM; Domingo, Enric E; Jones, Angela M AM; Broderick, Peter P; Kemp, Zoe Z; Spain, Sarah L SL; Guarino, Estrella E; Guarino Almeida, Estrella E; Salguero, Israel I; Sherborne, Amy A; Chubb, Daniel D; Carvajal-Carmona, Luis G LG; Ma, Yusanne Y; Kaur, Kulvinder K; Dobbins, Sara S; Barclay, Ella E; Gorman, Maggie M; Martin, Lynn L; Kovac, Michal B MB; Humphray, Sean S; , ; , ; Lucassen, Anneke A; Holmes, Christopher C CC; Bentley, David D; Donnelly, Peter P; Taylor, Jenny J; Petridis, Christos C; Roylance, Rebecca R; Sawyer, Elinor J EJ; Kerr, David J DJ; Clark, Susan S; Grimes, Jonathan J; Kearsey, Stephen E SE; Thomas, Huw J W HJ; McVean, Gilean G; Houlston, Richard S RS; Tomlinson, Ian I
Publication Date: 2013-02

Variant appearance in text: POLE: A19G
PubMed Link: 23263490
Variant Present in the following documents:
  • NIHMS53122-supplement-1.pdf
View BVdb publication page