Publications:

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Detection and characterization of constitutive replication origins defined by DNA polymerase epsilon.

Bmc Biology

Jaksik, Roman R; Wheeler, David A DA; Kimmel, Marek M

Publication Date: 2023-02-24

Variant appearance in text: rs483352909

PubMed Link: 36829160

Variant Present in the following documents:

• 12915_2023_1527_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: L424F

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

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: rs483352909

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?

Cancers

Amaral, Teresa T; Schulze, Martin M; Sinnberg, Tobias T; Nieser, Maike M; Martus, Peter P; Battke, Florian F; Garbe, Claus C; Biskup, Saskia S; Forschner, Andrea A

Publication Date: 2020-04-28

Variant appearance in text: POLE: 1270C>T; Leu424Phe

PubMed Link: 32354124

Variant Present in the following documents:

• Main text
• cancers-12-01101.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: L424F

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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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: 1270C>T; L424F

PubMed Link: 25124163

Variant Present in the following documents:

• Main text
• cam40003-1527.pdf

View BVdb publication page

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