Publications:

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Bmc Genomics

Demidova, Elena V EV; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Kelow, Simon S; Andrake, Mark D MD; Hartman, Tiffiney R TR; Kent, Tatiana T; Virtucio, James J; Rosen, Gail L GL; Pomerantz, Richard T RT; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Chen, David Y T DYT; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2023-04-24

Variant appearance in text: POLE: G2240R

PubMed Link: 37095444

Variant Present in the following documents:

• 12864_2023_9310_MOESM1_ESM.pdf

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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: G2240R

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: G2240R

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 6
• CTM2-11-e524-s001.xlsx, sheet 2

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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: G2240R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page