Publications:

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 824A>T

PubMed Link: 31829442

Variant Present in the following documents:

• Main text
• PATH-250-323-s002.xlsx, sheet 2
• PATH-250-323.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: D275V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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POLE proofreading defects: Contributions to mutagenesis and cancer.

Dna Repair

Park, Vivian S VS; Pursell, Zachary F ZF

Publication Date: 2019-04

Variant appearance in text: POLE: D275V

PubMed Link: 30818169

Variant Present in the following documents:

• Main text

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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: D275V

PubMed Link: 29352080

Variant Present in the following documents:

• Main text
• 1019.pdf
• 1019FileS1.pdf

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Family A and B DNA Polymerases in Cancer: Opportunities for Therapeutic Interventions.

Biology

Shanbhag, Vinit V; Sachdev, Shrikesh S; Flores, Jacqueline A JA; Modak, Mukund J MJ; Singh, Kamalendra K

Publication Date: 2018-01-02

Variant appearance in text: POLE: D275V

PubMed Link: 29301327

Variant Present in the following documents:

• Main text
• biology-07-00005.pdf

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Comprehensive Analysis of Hypermutation in Human Cancer.

Cell

Campbell, Brittany B BB; Light, Nicholas N; Fabrizio, David D; Zatzman, Matthew M; Fuligni, Fabio F; de Borja, Richard R; Davidson, Scott S; Edwards, Melissa M; Elvin, Julia A JA; Hodel, Karl P KP; Zahurancik, Walter J WJ; Suo, Zucai Z; Lipman, Tatiana T; Wimmer, Katharina K; Kratz, Christian P CP; Bowers, Daniel C DC; Laetsch, Theodore W TW; Dunn, Gavin P GP; Johanns, Tanner M TM; Grimmer, Matthew R MR; Smirnov, Ivan V IV; Larouche, Valérie V; Samuel, David D; Bronsema, Annika A; Osborn, Michael M; Stearns, Duncan D; Raman, Pichai P; Cole, Kristina A KA; Storm, Phillip B PB; Yalon, Michal M; Opocher, Enrico E; Mason, Gary G; Thomas, Gregory A GA; Sabel, Magnus M; George, Ben B; Ziegler, David S DS; Lindhorst, Scott S; Issai, Vanan Magimairajan VM; Constantini, Shlomi S; Toledano, Helen H; Elhasid, Ronit R; Farah, Roula R; Dvir, Rina R; Dirks, Peter P; Huang, Annie A; Galati, Melissa A MA; Chung, Jiil J; Ramaswamy, Vijay V; Irwin, Meredith S MS; Aronson, Melyssa M; Durno, Carol C; Taylor, Michael D MD; Rechavi, Gideon G; Maris, John M JM; Bouffet, Eric E; Hawkins, Cynthia C; Costello, Joseph F JF; Meyn, M Stephen MS; Pursell, Zachary F ZF; Malkin, David D; Tabori, Uri U; Shlien, Adam A

Publication Date: 2017-11-16

Variant appearance in text: POLE: D275V

PubMed Link: 29056344

Variant Present in the following documents:

• Main text

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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: D275V

PubMed Link: 25124163

Variant Present in the following documents:

• Main text
• cam40003-1527.pdf

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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics

Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP

Publication Date: 2013-07-15

Variant appearance in text: POLE: 824A>T; Asp275Val

PubMed Link: 23528559

Variant Present in the following documents:

• Main text

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Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

The Journal Of Pathology

Briggs, Sarah S; Tomlinson, Ian I

Publication Date: 2013-06

Variant appearance in text: POLE: Asp275Val

PubMed Link: 23447401

Variant Present in the following documents:

• Main text
• path0230-0148.pdf

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