POLE c.857C>T ;(p.P286L)

Variant ID: 12-133253184-G-A

NM_006231.2(POLE):c.857C>T;(p.P286L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: POLE: 857C>T; Pro286Leu
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: P286L
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
View BVdb publication page



Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: P286L
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
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: P286L
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
  • CTM2-11-e524-s001.xlsx, sheet 7
View BVdb publication page



Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.

Scientific Reports
Kazarian, Eve E; Marks, Asher A; Cui, Jin J; Darbinyan, Armine A; Tong, Elizabeth E; Mueller, Sabine S; Cha, Soonmee S; Aboian, Mariam S MS
Publication Date: 2021-07-13

Variant appearance in text: POLE: P286L
PubMed Link: 34257334
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92943.pdf
View BVdb publication page



Role of POLE and POLD1 in familial cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L
Publication Date: 2020-12

Variant appearance in text: POLE: P286L
PubMed Link: 32792570
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_922.pdf
  • 41436_2020_922_MOESM1_ESM.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: POLE: P286L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: POLE: 857C>T; P286L
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology
León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB
Publication Date: 2020-03

Variant appearance in text: POLE: 857C>T; P286L
PubMed Link: 31829442
Variant Present in the following documents:
  • Main text
  • PATH-250-323.pdf
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: POLE: Pro286Leu
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine
Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W
Publication Date: 2014-12

Variant appearance in text: POLE: 857C>T; P286L
PubMed Link: 25124163
Variant Present in the following documents:
  • Main text
  • cam40003-1527.pdf
View BVdb publication page