POLE c.2279C>T ;(p.A760V)

Variant ID: 12-133244129-G-A

NM_006231.2(POLE):c.2279C>T;(p.A760V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: A760V
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



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: A760V
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
  • CTM2-11-e524-s001.xlsx, sheet 6
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: POLE: 2279C>T; A760V
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: POLE: 2279C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma.

Nature Communications
Hu, Xin X; Fujimoto, Junya J; Ying, Lisha L; Fukuoka, Junya J; Ashizawa, Kazuto K; Sun, Wenyong W; Reuben, Alexandre A; Chow, Chi-Wan CW; McGranahan, Nicholas N; Chen, Runzhe R; Hu, Jinlin J; Godoy, Myrna C MC; Tabata, Kazuhiro K; Kuroda, Kishio K; Shi, Lei L; Li, Jun J; Behrens, Carmen C; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Mao, Xizeng X; Song, Xingzhi X; Tippen, Samantha S; Thornton, Rebecca L RL; Kadara, Humam H; Scheet, Paul P; Roarty, Emily E; Ostrin, Edwin Justin EJ; Wang, Xu X; Carter, Brett W BW; Antonoff, Mara B MB; Zhang, Jianhua J; Vaporciyan, Ara A AA; Pass, Harvey H; Swisher, Stephen G SG; Heymach, John V JV; Lee, J Jack JJ; Wistuba, Ignacio I II; Hong, Waun Ki WK; Futreal, P Andrew PA; Su, Dan D; Zhang, Jianjun J
Publication Date: 2019-07-05

Variant appearance in text: POLE: A760V
PubMed Link: 31278276
Variant Present in the following documents:
  • 41467_2019_10877_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: A760V
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page