Publications:

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The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity.

Nar Cancer

Labrousse, Guillaume G; Vande Perre, Pierre P; Parra, Genis G; Jaffrelot, Marion M; Leroy, Laura L; Chibon, Frederic F; Escudie, Frederic F; Selves, Janick J; Hoffmann, Jean-Sebastien JS; Guimbaud, Rosine R; Lutzmann, Malik M

Publication Date: 2023-06

Variant appearance in text: POLE: 1270C>G; Leu424Val

PubMed Link: 36915289

Variant Present in the following documents:

• Main text
• zcad011.pdf

View BVdb publication page

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Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Molecular Genetics And Genomics : Mgg

Rocque, Mariève J MJ; Leipart, Vilde V; Kumar Singh, Ashish A; Mur, Pilar P; Olsen, Maren F MF; Engebretsen, Lars F LF; Martin-Ramos, Edgar E; Aligué, Rosa R; Sætrom, Pål P; Valle, Laura L; Drabløs, Finn F; Otterlei, Marit M; Sjursen, Wenche W

Publication Date: 2023-03-01

Variant appearance in text: POLE: Leu424Val

PubMed Link: 36856825

Variant Present in the following documents:

• Main text
• 438_2023_2000_MOESM1_ESM.pdf
• 438_2023_Article_2000.pdf

View BVdb publication page

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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: rs483352909

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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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: POLE: 1270C>G; Leu424Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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An original cuproptosis-related genes signature effectively influences the prognosis and immune status of head and neck squamous cell carcinoma.

Frontiers In Genetics

Zheng, Xiwang X; Zhang, Chunming C; Zheng, Defei D; Guo, Qingbo Q; Maierhaba, Mijiti M; Xue, Lingbin L; Zeng, Xianhai X; Wu, Yongyan Y; Gao, Wei W

Publication Date: 2022

Variant appearance in text: POLE: L424V

PubMed Link: 36685880

Variant Present in the following documents:

• Main text
• fgene-13-1084206.pdf

View BVdb publication page

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Molecular profile-based recommendations for postoperative adjuvant therapy in early endometrial cancer with high-intermediate or intermediate risk: a Chinese randomized phase III trial (PROBEAT).

Journal Of Gynecologic Oncology

Li, Yang Y; Zhu, Changkun C; Xie, Hongyu H; Chen, Yaxia Y; Lv, Weiguo W; Xie, Xing X; Wang, Xinyu X

Publication Date: 2023-01-10

Variant appearance in text: POLE: L424V

PubMed Link: 36659832

Variant Present in the following documents:

• jgo-34-e37.pdf

View BVdb publication page

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Using canavanine resistance to measure mutation rates in Schizosaccharomyces pombe.

Plos One

Pai, Chen-Chun CC; Heitzer, Ellen E; Bertrand, Sibyl S; Toumazou, Sophia S; Humphrey, Timothy C TC; Kearsey, Stephen E SE

Publication Date: 2023

Variant appearance in text: POLE: L424V

PubMed Link: 36626373

Variant Present in the following documents:

• Main text
• pone.0271016.pdf

View BVdb publication page

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Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics

Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H

Publication Date: 2022

Variant appearance in text: POLE: 1270C>G; L424V

PubMed Link: 36479248

Variant Present in the following documents:

• Main text
• fgene-13-963964.pdf

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: POLE: 1270C>G; L424V

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: POLE: 1270C>G; Leu424Val; rs483352909

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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POLE/POLD1 mutation and tumor immunotherapy.

Journal Of Experimental & Clinical Cancer Research : Cr

Ma, Xiaoting X; Dong, Lin L; Liu, Xiu X; Ou, Kai K; Yang, Lin L

Publication Date: 2022-07-02

Variant appearance in text: POLE: L424V

PubMed Link: 35780178

Variant Present in the following documents:

• Main text
• 13046_2022_Article_2422.pdf

View BVdb publication page

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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: 1270C>G; Leu424Val; rs483352909

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.

Molecular Genetics And Genomics : Mgg

Skopelitou, Diamanto D; Srivastava, Aayushi A; Miao, Beiping B; Kumar, Abhishek A; Dymerska, Dagmara D; Paramasivam, Nagarajan N; Schlesner, Matthias M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A; Reddy Bandapalli, Obul O

Publication Date: 2022-07

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35562597

Variant Present in the following documents:

• Main text
• 438_2022_Article_1896.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: POLE: 1270C>G; Leu424Val

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13-15, 2021.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: POLE: L424V

PubMed Link: 35366121

Variant Present in the following documents:

• Main text
• 10689_2021_Article_284.pdf

View BVdb publication page

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Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Journal Of Gynecologic Oncology

Yu, Shuangni S; Sun, Zezheng Z; Zong, Liju L; Yan, Jie J; Yu, Mei M; Chen, Jie J; Lu, Zhaohui Z

Publication Date: 2022-05

Variant appearance in text: POLE: L424V

PubMed Link: 35320887

Variant Present in the following documents:

• jgo-33-e38-s001.xls, sheet 1
• jgo-33-e38-s002.xls, sheet 1
• jgo-33-e38.pdf

View BVdb publication page

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Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.

Npj Precision Oncology

Berrino, Enrico E; Filippi, Roberto R; Visintin, Clara C; Peirone, Serena S; Fenocchio, Elisabetta E; Farinea, Giovanni G; Veglio, Franco F; Aglietta, Massimo M; Sapino, Anna A; Cereda, Matteo M; Visintin, Rosella R; Pasini, Barbara B; Marchiò, Caterina C

Publication Date: 2022-03-08

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35260767

Variant Present in the following documents:

• Main text
• 41698_2022_Article_258.pdf

View BVdb publication page

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Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.

International Journal Of Molecular Sciences

Miao, Beiping B; Skopelitou, Diamanto D; Srivastava, Aayushi A; Giangiobbe, Sara S; Dymerska, Dagmara D; Paramasivam, Nagarajan N; Kumar, Abhishek A; Kuświk, Magdalena M; Kluźniak, Wojciech W; Paszkowska-Szczur, Katarzyna K; Schlesner, Matthias M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A; Bandapalli, Obul Reddy OR

Publication Date: 2022-01-24

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35163215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.

International Journal Of Molecular Sciences

Miao, Beiping B; Skopelitou, Diamanto D; Srivastava, Aayushi A; Giangiobbe, Sara S; Dymerska, Dagmara D; Paramasivam, Nagarajan N; Kumar, Abhishek A; Kuświk, Magdalena M; Kluźniak, Wojciech W; Paszkowska-Szczur, Katarzyna K; Schlesner, Matthias M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A; Bandapalli, Obul Reddy OR

Publication Date: 2022-01-24

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35163215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Cancers

Zhu, Lizhen L; Miao, Beiping B; Dymerska, Dagmara D; Kuswik, Magdalena M; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Velasco, Eladio A EA; Paramasivam, Nagarajan N; Schlesner, Matthias M; Kumar, Abhishek A; Yuan, Ying Y; Lubinski, Jan J; Bandapalli, Obul Reddy OR; Hemminki, Kari K; Försti, Asta A

Publication Date: 2022-01-28

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35158942

Variant Present in the following documents:

• Main text
• cancers-14-00670.pdf

View BVdb publication page

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Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Cancers

Zhu, Lizhen L; Miao, Beiping B; Dymerska, Dagmara D; Kuswik, Magdalena M; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Velasco, Eladio A EA; Paramasivam, Nagarajan N; Schlesner, Matthias M; Kumar, Abhishek A; Yuan, Ying Y; Lubinski, Jan J; Bandapalli, Obul Reddy OR; Hemminki, Kari K; Försti, Asta A

Publication Date: 2022-01-28

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35158942

Variant Present in the following documents:

• Main text
• cancers-14-00670.pdf

View BVdb publication page

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Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.

Neuro-Oncology Advances

van de Geer, Wesley S WS; Hoogstrate, Youri Y; Draaisma, Kaspar K; Robe, Pierre A PA; Bins, Sander S; Mathijssen, Ron H J RHJ; French, Pim P; van de Werken, Harmen J G HJG; de Vos, Filip Y F FYF

Publication Date: 2022

Variant appearance in text: POLE: Leu424Val

PubMed Link: 35047820

Variant Present in the following documents:

• vdab177_suppl_supplementary_data.xlsx, sheet 6

View BVdb publication page

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Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

The Application Of Clinical Genetics

Jelsig, Anne Marie AM; Byrjalsen, Anna A; Busk Madsen, Majbritt M; Kuhlmann, Tine Plato TP; van Overeem Hansen, Thomas T; Wadt, Karin A W KAW; Karstensen, John Gásdal JG

Publication Date: 2021

Variant appearance in text: POLE: Leu424Val

PubMed Link: 34866929

Variant Present in the following documents:

• Main text
• tacg-14-455.pdf

View BVdb publication page

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Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine

Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A

Publication Date: 2021-11-09

Variant appearance in text: POLE: Leu424Val

PubMed Link: 34749799

Variant Present in the following documents:

• Main text
• 13073_2021_976_MOESM1_ESM.pdf
• 13073_2021_Article_976.pdf

View BVdb publication page

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Growth Factors, PI3K/AKT/mTOR and MAPK Signaling Pathways in Colorectal Cancer Pathogenesis: Where Are We Now?

International Journal Of Molecular Sciences

Stefani, Constantin C; Miricescu, Daniela D; Stanescu-Spinu, Iulia-Ioana II; Nica, Remus Iulian RI; Greabu, Maria M; Totan, Alexandra Ripszky AR; Jinga, Mariana M

Publication Date: 2021-09-23

Variant appearance in text: POLE: L424V

PubMed Link: 34638601

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: POLE: L424V

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: POLE: L424V

PubMed Link: 34594041

Variant Present in the following documents:

• Main text
• 41588_2021_930_MOESM3_ESM.xlsx, sheet 1
• 41588_2021_Article_930.pdf
• 41588_2021_930_MOESM1_ESM.pdf

View BVdb publication page

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: POLE: L424V

PubMed Link: 34594041

Variant Present in the following documents:

• Main text
• 41588_2021_930_MOESM3_ESM.xlsx, sheet 1
• 41588_2021_Article_930.pdf
• 41588_2021_930_MOESM1_ESM.pdf

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: L424V

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 8
• CTM2-11-e524-s001.xlsx, sheet 6
• CTM2-11-e524-s001.xlsx, sheet 2

View BVdb publication page

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Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.

Journal For Immunotherapy Of Cancer

Ying, Jieer J; Yang, Lin L; Yin, Jiani C JC; Xia, Guojie G; Xing, Minyan M; Chen, Xiaoxi X; Pang, Jiaohui J; Wu, Yong Y; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Zhu, Lingjun L; Cheng, Xiangdong X

Publication Date: 2021-09

Variant appearance in text: POLE: L424V

PubMed Link: 34479923

Variant Present in the following documents:

• Main text
• jitc-2021-002336.pdf

View BVdb publication page

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Towards Personalized Medicine: Non-Coding RNAs and Endometrial Cancer.

Healthcare (Basel, Switzerland)

Cavaliere, Anna Franca AF; Perelli, Federica F; Zaami, Simona S; Piergentili, Roberto R; Mattei, Alberto A; Vizzielli, Giuseppe G; Scambia, Giovanni G; Straface, Gianluca G; Restaino, Stefano S; Signore, Fabrizio F

Publication Date: 2021-07-30

Variant appearance in text: POLE: L424V

PubMed Link: 34442102

Variant Present in the following documents:

• Main text
• healthcare-09-00965.pdf

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: 1270C>G; L424V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: POLE: L424V

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: POLE: L424V

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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DNA Polymerases at the Eukaryotic Replication Fork Thirty Years after: Connection to Cancer.

Cancers

Pavlov, Youri I YI; Zhuk, Anna S AS; Stepchenkova, Elena I EI

Publication Date: 2020-11-24

Variant appearance in text: POLE: L424V

PubMed Link: 33255191

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.

International Journal Of Molecular Sciences

Te Paske, Iris B A W IBAW; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; de Voer, Richarda M RM

Publication Date: 2020-11-19

Variant appearance in text: POLE: 1270C>G; Leu424Val

PubMed Link: 33228212

Variant Present in the following documents:

• Main text
• ijms-21-08757.pdf

View BVdb publication page

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Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Cancer Research

Galati, Melissa A MA; Hodel, Karl P KP; Gams, Miki S MS; Sudhaman, Sumedha S; Bridge, Taylor T; Zahurancik, Walter J WJ; Ungerleider, Nathan A NA; Park, Vivian S VS; Ercan, Ayse B AB; Joksimovic, Lazar L; Siddiqui, Iram I; Siddaway, Robert R; Edwards, Melissa M; de Borja, Richard R; Elshaer, Dana D; Chung, Jiil J; Forster, Victoria J VJ; Nunes, Nuno M NM; Aronson, Melyssa M; Wang, Xia X; Ramdas, Jagadeesh J; Seeley, Andrea A; Sarosiek, Tomasz T; Dunn, Gavin P GP; Byrd, Jonathan N JN; Mordechai, Oz O; Durno, Carol C; Martin, Alberto A; Shlien, Adam A; Bouffet, Eric E; Suo, Zucai Z; Jackson, James G JG; Hawkins, Cynthia E CE; Guidos, Cynthia J CJ; Pursell, Zachary F ZF; Tabori, Uri U

Publication Date: 2020-12-15

Variant appearance in text: POLE: L424V

PubMed Link: 32938641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine

Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL

Publication Date: 2020-10

Variant appearance in text: POLE: 1270C>G; L424V

PubMed Link: 32927274

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy

Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X

Publication Date: 2020

Variant appearance in text: POLE: L424V

PubMed Link: 32801757

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Leu424Val

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

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