Publications:

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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: S1297L

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 8

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: 3890C>T; Ser1297Leu; rs746585658

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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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: S1297L

PubMed Link: 32546565

Variant Present in the following documents:

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

View BVdb publication page

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: POLE: 3890C>T; Ser1297Leu

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

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: S1297L

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Cell

Petljak, Mia M; Alexandrov, Ludmil B LB; Brammeld, Jonathan S JS; Price, Stacey S; Wedge, David C DC; Grossmann, Sebastian S; Dawson, Kevin J KJ; Ju, Young Seok YS; Iorio, Francesco F; Tubio, Jose M C JMC; Koh, Ching Chiek CC; Georgakopoulos-Soares, Ilias I; Rodríguez-Martín, Bernardo B; Otlu, Burçak B; O'Meara, Sarah S; Butler, Adam P AP; Menzies, Andrew A; Bhosle, Shriram G SG; Raine, Keiran K; Jones, David R DR; Teague, Jon W JW; Beal, Kathryn K; Latimer, Calli C; O'Neill, Laura L; Zamora, Jorge J; Anderson, Elizabeth E; Patel, Nikita N; Maddison, Mark M; Ng, Bee Ling BL; Graham, Jennifer J; Garnett, Mathew J MJ; McDermott, Ultan U; Nik-Zainal, Serena S; Campbell, Peter J PJ; Stratton, Michael R MR

Publication Date: 2019-03-07

Variant appearance in text: POLE: 3890C>T; S1297L

PubMed Link: 30849372

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: POLE: S1297L

PubMed Link: 28202063

Variant Present in the following documents:

• Main text
• 12920_2017_Article_244.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: 3890C>T; S1297L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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