Publications:

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Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Journal Of Medical Genetics

Nakano, Tomohiro T; Sasahara, Yoji Y; Kikuchi, Atsuo A; Moriya, Kunihiko K; Niizuma, Hidetaka H; Niihori, Tetsuya T; Shirota, Matsuyuki M; Funayama, Ryo R; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S

Publication Date: 2022-05-09

Variant appearance in text: POLE: 2091dupC

PubMed Link: 35534205

Variant Present in the following documents:

• Main text
• jmedgenet-2021-108300.pdf

View BVdb publication page

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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: 2091_2092insC

PubMed Link: 35108036

Variant Present in the following documents:

• po-6-e2100267.pdf

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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: 2091_2092insC

PubMed Link: 35108036

Variant Present in the following documents:

• po-6-e2100267.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: 2091dup; Phe699Valfs

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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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Genes & Development

Parry, David A DA; Tamayo-Orrego, Lukas L; Carroll, Paula P; Marsh, Joseph A JA; Greene, Philip P; Murina, Olga O; Uggenti, Carolina C; Leitch, Andrea A; , ; Káposzta, Rita R; Merő, Gabriella G; Nagy, Andrea A; Orlik, Brigitta B; Kovács-Pászthy, Balázs B; Quigley, Alan J AJ; Riszter, Magdolna M; Rankin, Julia J; Reijns, Martin A M MAM; Szakszon, Katalin K; Jackson, Andrew P AP; ,

Publication Date: 2020-11-01

Variant appearance in text: POLE: 2091dup

PubMed Link: 33060134

Variant Present in the following documents:

• supp_gad.340190.120_Supplemental_Table_S3.xlsx, sheet 1

View BVdb publication page

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: POLE: 2091dup; F699Vfs*11

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of POLE and POLD1 Gene Variations identifies cancer patients potentially benefit from immunotherapy in Chinese population.

Scientific Reports

Yao, Jianfei J; Gong, Yuan Y; Zhao, Wei W; Han, Zhifeng Z; Guo, Shaohua S; Liu, Hongyi H; Peng, Xiumei X; Xiao, Wenhua W; Li, Yuemin Y; Dang, Shiying S; Liu, Guifeng G; Li, Lifeng L; Huang, Tanxiao T; Chen, Shifu S; Song, Lele L

Publication Date: 2019-10-31

Variant appearance in text: POLE: 2091dupC; F699Vfs*11

PubMed Link: 31673068

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52414.pdf

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: POLE: 2091_2092insC; Phe699fs

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 3

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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: 2091dupC

PubMed Link: 30503519

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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: 2091_2092insC

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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