POLE c.1337G>A ;(p.R446Q)

Variant ID: 12-133250183-C-T

NM_006231.2(POLE):c.1337G>A;(p.R446Q)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25

Variant appearance in text: POLE: 1337G>A; R446Q
PubMed Link: 37231433
Variant Present in the following documents:
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Targeting the FGF/FGFR axis and its co-alteration allies.

Esmo Open
Uehara, Y Y; Ikeda, S S; Kim, K H KH; Lim, H J HJ; Adashek, J J JJ; Persha, H E HE; Okamura, R R; Lee, S S; Sicklick, J K JK; Kato, S S; Kurzrock, R R
Publication Date: 2022-11-28

Variant appearance in text: POLE: R446Q
PubMed Link: 36455506
Variant Present in the following documents:
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: POLE: R446Q
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



The genomic landscape of pediatric renal cell carcinomas.

Iscience
Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N
Publication Date: 2022-04-15

Variant appearance in text: POLE: 1337G>A; Arg446Gln
PubMed Link: 35445187
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc6.xlsx, sheet 1
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: POLE: 1337G>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand.

Cancers
Henry, Claire E CE; Phan, Khoi K; Orsman, Elena J EJ; Kenwright, Diane D; Thunders, Michelle C MC; Filoche, Sara K SK
Publication Date: 2021-11-11

Variant appearance in text: POLE: 1337G>A; R446Q
PubMed Link: 34830795
Variant Present in the following documents:
  • Main text
  • cancers-13-05641.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: R446Q
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 1337G>A; Arg446Gln; rs151273553
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: POLE: R446Q
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: R446Q
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: POLE: R446Q
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
View BVdb publication page



Comprehensive Analysis of Hypermutation in Human Cancer.

Cell
Campbell, Brittany B BB; Light, Nicholas N; Fabrizio, David D; Zatzman, Matthew M; Fuligni, Fabio F; de Borja, Richard R; Davidson, Scott S; Edwards, Melissa M; Elvin, Julia A JA; Hodel, Karl P KP; Zahurancik, Walter J WJ; Suo, Zucai Z; Lipman, Tatiana T; Wimmer, Katharina K; Kratz, Christian P CP; Bowers, Daniel C DC; Laetsch, Theodore W TW; Dunn, Gavin P GP; Johanns, Tanner M TM; Grimmer, Matthew R MR; Smirnov, Ivan V IV; Larouche, Valérie V; Samuel, David D; Bronsema, Annika A; Osborn, Michael M; Stearns, Duncan D; Raman, Pichai P; Cole, Kristina A KA; Storm, Phillip B PB; Yalon, Michal M; Opocher, Enrico E; Mason, Gary G; Thomas, Gregory A GA; Sabel, Magnus M; George, Ben B; Ziegler, David S DS; Lindhorst, Scott S; Issai, Vanan Magimairajan VM; Constantini, Shlomi S; Toledano, Helen H; Elhasid, Ronit R; Farah, Roula R; Dvir, Rina R; Dirks, Peter P; Huang, Annie A; Galati, Melissa A MA; Chung, Jiil J; Ramaswamy, Vijay V; Irwin, Meredith S MS; Aronson, Melyssa M; Durno, Carol C; Taylor, Michael D MD; Rechavi, Gideon G; Maris, John M JM; Bouffet, Eric E; Hawkins, Cynthia C; Costello, Joseph F JF; Meyn, M Stephen MS; Pursell, Zachary F ZF; Malkin, David D; Tabori, Uri U; Shlien, Adam A
Publication Date: 2017-11-16

Variant appearance in text: POLE: R446Q
PubMed Link: 29056344
Variant Present in the following documents:
  • Main text
View BVdb publication page



A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: POLE: R446Q; rs151273553
PubMed Link: 28569218
Variant Present in the following documents:
  • 13058_2017_854_MOESM3_ESM.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: 1337G>A; R446Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics
Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP
Publication Date: 2013-07-15

Variant appearance in text: POLE: 1337G>A; Arg446Gln; rs151273553
PubMed Link: 23528559
Variant Present in the following documents:
  • Main text
  • ddt131.pdf
  • supp_ddt131_ddt131supp.pdf
View BVdb publication page