POLE c.1434C>G ;(p.I478M)

Variant ID: 12-133249789-G-C

NM_006231.2(POLE):c.1434C>G;(p.I478M)

This variant was identified in 4 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: I478M
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: I478M
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



Implications of driver genes associated with a high tumor mutation burden identified using next-generation sequencing on immunotherapy in hepatocellular carcinoma.

Oncology Letters
Li, Li L; Rao, Xiaosong X; Wen, Zhaohong Z; Ding, Xiaosheng X; Wang, Xiangyi X; Xu, Weiran W; Meng, Chao C; Yi, Yuting Y; Guan, Yanfang Y; Chen, Yongshen Y; Wang, Jiayin J; Jun, Liang L
Publication Date: 2020-04

Variant appearance in text: POLE: 1434C>G
PubMed Link: 32218826
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • ol-19-04-2739.pdf
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: POLE: I478M
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page