Publications:

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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: 1439C>T; A480V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Mutagenic mechanisms of cancer-associated DNA polymerase ϵ alleles.

Nucleic Acids Research

Herzog, Mareike M; Alonso-Perez, Elisa E; Salguero, Israel I; Warringer, Jonas J; Adams, David J DJ; Jackson, Stephen P SP; Puddu, Fabio F

Publication Date: 2021-04-19

Variant appearance in text: POLE: A480V

PubMed Link: 33764464

Variant Present in the following documents:

• Main text
• gkab160.pdf

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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: A480V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Phenotype of POLE-mutated endometrial cancer.

Plos One

Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW

Publication Date: 2019

Variant appearance in text: POLE: 1439C>T; A480V

PubMed Link: 30917185

Variant Present in the following documents:

• Main text
• pone.0214318.pdf

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Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: POLE: Ala480Val

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-s001.pdf

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Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine

Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W

Publication Date: 2014-12

Variant appearance in text: POLE: 1439C>T; A480V

PubMed Link: 25124163

Variant Present in the following documents:

• Main text
• cam40003-1527.pdf

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