POLE c.1372T>C ;(p.Y458H)

Variant ID: 12-133249851-A-G

NM_006231.2(POLE):c.1372T>C;(p.Y458H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Molecular Genetics And Genomics : Mgg
Rocque, Mariève J MJ; Leipart, Vilde V; Kumar Singh, Ashish A; Mur, Pilar P; Olsen, Maren F MF; Engebretsen, Lars F LF; Martin-Ramos, Edgar E; Aligué, Rosa R; Sætrom, Pål P; Valle, Laura L; Drabløs, Finn F; Otterlei, Marit M; Sjursen, Wenche W
Publication Date: 2023-03-01

Variant appearance in text: POLE: Tyr458His
PubMed Link: 36856825
Variant Present in the following documents:
  • Main text
  • 438_2023_Article_2000.pdf
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Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.

Journal Of Gynecologic Oncology
Yu, Shuangni S; Sun, Zezheng Z; Zong, Liju L; Yan, Jie J; Yu, Mei M; Chen, Jie J; Lu, Zhaohui Z
Publication Date: 2022-05

Variant appearance in text: POLE: Y458H
PubMed Link: 35320887
Variant Present in the following documents:
  • jgo-33-e38-s001.xls, sheet 1
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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: Y458H
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: Y458H
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
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: Y458H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page