POLE c.1187A>G ;(p.E396G)

Variant ID: 12-133252023-T-C

NM_006231.2(POLE):c.1187A>G;(p.E396G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: E396G
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.

Jci Insight
Xu, Pingping P; Sun, Danfeng D; Gao, Yaqi Y; Jiang, Yi Y; Zhong, Ming M; Zhao, Gang G; Chen, Jinxian J; Wang, Zheng Z; Liu, Qiang Q; Hong, Jie J; Chen, Haoyan H; Chen, Ying-Xuan YX; Fang, Jing-Yuan JY
Publication Date: 2021-09-22

Variant appearance in text: POLE: 1187A>G; E396G
PubMed Link: 34549727
Variant Present in the following documents:
  • jciinsight-6-148931.pdf
  • jciinsight-6-148931-s278.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: POLE: 1187A>G; E396G
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 1187A>G; E396G
PubMed Link: 31829442
Variant Present in the following documents:
  • Main text
  • PATH-250-323.pdf
  • PATH-250-323-s002.xlsx, sheet 2
View BVdb publication page



Phenotype of POLE-mutated endometrial cancer.

Plos One
Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW
Publication Date: 2019

Variant appearance in text: POLE: E396G
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page