Publications:

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Detection and characterization of constitutive replication origins defined by DNA polymerase epsilon.

Bmc Biology

Jaksik, Roman R; Wheeler, David A DA; Kimmel, Marek M

Publication Date: 2023-02-24

Variant appearance in text: rs775815329

PubMed Link: 36829160

Variant Present in the following documents:

• 12915_2023_1527_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine

Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X

Publication Date: 2022-09

Variant appearance in text: POLE: 448C>T; R150*

PubMed Link: 36103400

Variant Present in the following documents:

• CTM2-12-e1015-s002.xlsx, sheet 1

View BVdb publication page

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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: R150*

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

View BVdb publication page

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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: 448C>T; Arg150Ter; rs775815329

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications

Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J

Publication Date: 2020-10-14

Variant appearance in text: POLE: R150*

PubMed Link: 33056981

Variant Present in the following documents:

• 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 448C>T; R150*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: POLE: 448C>T; R150W

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas.

Plos One

Beinse, Guillaume G; Just, Pierre-Alexandre PA; Rance, Bastien B; Izac, Brigitte B; Letourneur, Franck F; Saidu, Nathaniel Edward Bennett NEB; Chouzenoux, Sandrine S; Nicco, Carole C; Goldwasser, François F; Pasmant, Eric E; Batteux, Frederic F; Borghese, Bruno B; Alexandre, Jérôme J; Leroy, Karen K

Publication Date: 2019

Variant appearance in text: POLE: Arg150Ter

PubMed Link: 30908539

Variant Present in the following documents:

• pone.0214416.s013.xlsx, sheet 1

View BVdb publication page

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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: R150*

PubMed Link: 30459213

Variant Present in the following documents:

• supp_gr.238543.118_Supplemental_Table_S1.xlsx, sheet 1

View BVdb publication page

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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: R150*

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s004.xlsx, sheet 1

View BVdb publication page

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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: 448C>T; R150*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg

Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H

Publication Date: 2016-07

Variant appearance in text: POLE: 448C>T

PubMed Link: 26648449

Variant Present in the following documents:

• ejhg2015252x4.xlsx, sheet 1

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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: R150X

PubMed Link: 23263490

Variant Present in the following documents:

• Main text
• emss-53122.pdf
• NIHMS53122-supplement-1.pdf

View BVdb publication page

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