Publications:

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Unexplained mismatch repair deficiency: Case closed.

Hgg Advances

Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A

Publication Date: 2023-01-12

Variant appearance in text: POLE: 2284C>T; Arg762Trp

PubMed Link: 36624813

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: POLE: R762W; rs1064794759

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: POLE: 2284C>T; R762W

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: POLE: R762W

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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: 2284C>T; Arg762Trp

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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Finding the hot spot: identifying immune sensitive gastrointestinal tumors.

Translational Gastroenterology And Hepatology

De Souza, Andre Luiz Pitanga Bastos ALPB

Publication Date: 2020

Variant appearance in text: POLE: R762W

PubMed Link: 33073043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inconsistent Intersample ALK FISH Results in Patients with Lung Cancer: Analysis of Potential Causes.

Cancers

Tang, Zhenya Z; Chen, Hui H; Hong, Lingzhi L; Tang, Guilin G; Toruner, Gokce A GA; Wang, Wei W; Roy Chowdhuri, Sinchita S; Yin, Wei W; Jung, Hai Suk HS; Gu, Jun J; Routbort, Mark J MJ; Zhang, Jianjun J; Khoury, Joseph D JD; Medeiros, L Jeffrey LJ

Publication Date: 2020-07-14

Variant appearance in text: POLE: 2284C>T

PubMed Link: 32674491

Variant Present in the following documents:

• cancers-12-01903.pdf

View BVdb publication page

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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: R762W

PubMed Link: 32546565

Variant Present in the following documents:

• jmedgenet-2019-106739supp001.xlsx, sheet 7

View BVdb publication page

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Prevalence of established and emerging biomarkers of immune checkpoint inhibitor response in advanced hepatocellular carcinoma.

Oncotarget

Ang, Celina C; Klempner, Samuel J SJ; Ali, Siraj M SM; Madison, Russell R; Ross, Jeffrey S JS; Severson, Eric A EA; Fabrizio, David D; Goodman, Aaron A; Kurzrock, Razelle R; Suh, James J; Millis, Sherri Z SZ

Publication Date: 2019-06-18

Variant appearance in text: POLE: R762W

PubMed Link: 31258846

Variant Present in the following documents:

• Main text
• oncotarget-10-4018.pdf

View BVdb publication page

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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: R762W

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Mismatch repair deficiency in high-grade meningioma: a rare but recurrent event associated with dramatic immune activation and clinical response to PD-1 blockade.

Jco Precision Oncology

Dunn, Ian F IF; Du, Ziming Z; Touat, Mehdi M; Sisti, Michael B MB; Wen, Patrick Y PY; Umeton, Renato R; Dubuc, Adrian M AM; Ducar, Matthew M; Canoll, Peter D PD; Severson, Eric E; Elvin, Julia A JA; Ramkissoon, Shakti H SH; Lin, Jia-Ren JR; Cabrera, Lais L; Acevedo, Brenda B; Sorger, Peter K PK; Ligon, Keith L KL; Santagata, Sandro S; Reardon, David A DA

Publication Date: 2018

Variant appearance in text: POLE: R762W

PubMed Link: 30801050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.

G3 (Bethesda, Md.)

Barbari, Stephanie R SR; Kane, Daniel P DP; Moore, Elizabeth A EA; Shcherbakova, Polina V PV

Publication Date: 2018-03-02

Variant appearance in text: POLE: R762W

PubMed Link: 29352080

Variant Present in the following documents:

• Main text
• 1019FileS1.pdf

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: R762W

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: 2284C>T; R762W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: POLE: R762W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: POLE: R762W

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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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: R762W

PubMed Link: 23263490

Variant Present in the following documents:

• Main text
• emss-53122.pdf

View BVdb publication page

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