Publications:

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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: 1089C>G; Asn363Lys

PubMed Link: 36856825

Variant Present in the following documents:

• Main text
• 438_2023_2000_MOESM1_ESM.pdf

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EANO guideline on rational molecular testing of gliomas, glioneuronal and neuronal tumors in adults for targeted therapy selection.

Neuro-Oncology

Capper, David D; Reifenberger, Guido G; French, Pim J PJ; Schweizer, Leonille L; Weller, Michael M; Touat, Mehdi M; Niclou, Simone P SP; Euskirchen, Philipp P; Haberler, Christine C; Hegi, Monika E ME; Brandner, Sebastian S; Le Rhun, Emilie E; Rudà, Roberta R; Sanson, Marc M; Tabatabai, Ghazaleh G; Sahm, Felix F; Wen, Patrick Y PY; Wesseling, Pieter P; Preusser, Matthias M; van den Bent, Martin J MJ

Publication Date: 2023-01-12

Variant appearance in text: POLE: N363K

PubMed Link: 36632791

Variant Present in the following documents:

• noad008_suppl_supplementary_material.pdf

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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: Asn363Lys

PubMed Link: 35780178

Variant Present in the following documents:

• Main text
• 13046_2022_Article_2422.pdf

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Current Prognostic and Predictive Biomarkers for Endometrial Cancer in Clinical Practice: Recommendations/Proposal from the Italian Study Group.

Frontiers In Oncology

Zannoni, Gian Franco GF; Bragantini, Emma E; Castiglione, Francesca F; Fassan, Matteo M; Troncone, Giancarlo G; Inzani, Frediano F; Pesci, Anna A; Santoro, Angela A; Fraggetta, Filippo F

Publication Date: 2022

Variant appearance in text: POLE: N363K

PubMed Link: 35463299

Variant Present in the following documents:

• Main text
• fonc-12-805613.pdf

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs146639652

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs146639652

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: POLE: N363K

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_Article_1304.pdf

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: POLE: N363K

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_Article_1304.pdf

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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: Asn363Lys

PubMed Link: 34749799

Variant Present in the following documents:

• Main text
• 13073_2021_Article_976.pdf

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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: N363K

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 1

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: N363K

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 1

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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: N363K

PubMed Link: 34479923

Variant Present in the following documents:

• Main text
• jitc-2021-002336.pdf

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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: 1089C>G; N363K

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.

Endocrine Connections

Siraj, Abdul K AK; Bu, Rong R; Arshad, Maham M; Iqbal, Kaleem K; Parvathareddy, Sandeep Kumar SK; Masoodi, Tariq T; Ghazwani, Laila Omar LO; Al-Sobhi, Saif S SS; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS

Publication Date: 2020-10

Variant appearance in text: POLE: N363K

PubMed Link: 32992294

Variant Present in the following documents:

• EC-20-0258.pdf

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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: 1089C>G; Asn363Lys

PubMed Link: 32792570

Variant Present in the following documents:

• Main text
• 41436_2020_922_MOESM1_ESM.pdf
• 41436_2020_Article_922.pdf

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POLE mutations improve the prognosis of endometrial cancer via regulating cellular metabolism through AMF/AMFR signal transduction.

Bmc Medical Genetics

Li, Yiran Y; Bian, Yiding Y; Wang, Kai K; Wan, Xiao-Ping XP

Publication Date: 2019-12-21

Variant appearance in text: POLE: N363K

PubMed Link: 31864301

Variant Present in the following documents:

• 12881_2019_Article_936.pdf

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Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2019-08-30

Variant appearance in text: POLE: N363K

PubMed Link: 31480372

Variant Present in the following documents:

• cancers-11-01279.pdf

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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

American Journal Of Human Genetics

Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP

Publication Date: 2018-12-06

Variant appearance in text: POLE: Asn363Lys

PubMed Link: 30503519

Variant Present in the following documents:

• main.pdf
• mmc2.pdf

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Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.

Dna Repair

Barbari, Stephanie R SR; Shcherbakova, Polina V PV

Publication Date: 2017-08

Variant appearance in text: POLE: N363K

PubMed Link: 28687338

Variant Present in the following documents:

• Main text

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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget

Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S

Publication Date: 2017-04-18

Variant appearance in text: POLE: Asn363Lys

PubMed Link: 28423643

Variant Present in the following documents:

• Main text
• oncotarget-08-26732.pdf

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Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.

Genes

Mertz, Tony M TM; Harcy, Victoria V; Roberts, Steven A SA

Publication Date: 2017-01-22

Variant appearance in text: POLE: N363K

PubMed Link: 28117753

Variant Present in the following documents:

• Main text

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The mutational landscape of endometrial cancer.

Current Opinion In Genetics & Development

Hong, Bo B; Le Gallo, Matthieu M; Bell, Daphne W DW

Publication Date: 2015-02

Variant appearance in text: POLE: Asn363Lys

PubMed Link: 25622247

Variant Present in the following documents:

• Main text

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A mutation in POLE predisposing to a multi-tumour phenotype.

International Journal Of Oncology

Rohlin, Anna A; Zagoras, Theofanis T; Nilsson, Staffan S; Lundstam, Ulf U; Wahlström, Jan J; Hultén, Leif L; Martinsson, Tommy T; Karlsson, Göran B GB; Nordling, Margareta M

Publication Date: 2014-07

Variant appearance in text: POLE: Asn363Lys; rs146639652

PubMed Link: 24788313

Variant Present in the following documents:

• Main text
• ijo-45-01-0077.pdf

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