POLE c.1669C>T ;(p.P557S)

Variant ID: 12-133249230-G-A

NM_006231.2(POLE):c.1669C>T;(p.P557S)

This variant was identified in 5 publications

View GRCh38 version.




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: P557S
PubMed Link: 37095444
Variant Present in the following documents:
  • 12864_2023_9310_MOESM1_ESM.pdf
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: P557S
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



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: POLE: P557S
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 7
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: POLE: Pro557Ser
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_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: P557S
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page