POLE c.3763T>G ;(p.L1255V)

Variant ID: 12-133226295-A-C

NM_006231.2(POLE):c.3763T>G;(p.L1255V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: POLE: L1255V
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine
Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q
Publication Date: 2021-09

Variant appearance in text: POLE: L1255V
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: POLE: L1255V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Plos Genetics
Fang, Hu H; Barbour, Jayne A JA; Poulos, Rebecca C RC; Katainen, Riku R; Aaltonen, Lauri A LA; Wong, Jason W H JWH
Publication Date: 2020-02

Variant appearance in text: POLE: L1255V
PubMed Link: 32012149
Variant Present in the following documents:
  • pgen.1008572.s019.xlsx, sheet 1
View BVdb publication page



Quantification of somatic mutation flow across individual cell division events by lineage sequencing.

Genome Research
Brody, Yehuda Y; Kimmerling, Robert J RJ; Maruvka, Yosef E YE; Benjamin, David D; Elacqua, Joshua J JJ; Haradhvala, Nicholas J NJ; Kim, Jaegil J; Mouw, Kent W KW; Frangaj, Kristjana K; Koren, Amnon A; Getz, Gad G; Manalis, Scott R SR; Blainey, Paul C PC
Publication Date: 2018-12

Variant appearance in text: POLE: L1255V
PubMed Link: 30459213
Variant Present in the following documents:
  • supp_gr.238543.118_Supplemental_Table_S1.xlsx, sheet 1
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: POLE: L1255V
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s004.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: POLE: 3763T>G; L1255V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: POLE: L1255V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: L1255V
PubMed Link: 23263490
Variant Present in the following documents:
  • Main text
  • NIHMS53122-supplement-1.pdf
  • emss-53122.pdf
View BVdb publication page