POLE c.1231G>A ;(p.V411M)

Variant ID: 12-133250289-C-T

NM_006231.2(POLE):c.1231G>A;(p.V411M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: V411M
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
View BVdb publication page



Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: V411M
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 1231G>A; Val411Met
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs1057519945
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy
Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X
Publication Date: 2020

Variant appearance in text: POLE: V411M
PubMed Link: 32801757
Variant Present in the following documents:
  • Main text
  • ott-13-7305.pdf
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: 1231G>A; V411M
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page



Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine
Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W
Publication Date: 2014-12

Variant appearance in text: POLE: 1231G>A; V411M
PubMed Link: 25124163
Variant Present in the following documents:
  • Main text
  • cam40003-1527.pdf
View BVdb publication page