POLE c.155G>A ;(p.R52Q)

Variant ID: 12-133257773-C-T

NM_006231.2(POLE):c.155G>A;(p.R52Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: POLE: 155G>A; Arg52Gln; rs372459649
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: POLE: 155G>A; Arg52His
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
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: R52Q
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



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: 155G>A; R52Q; rs372459649
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.

Nature Communications
Sun, Jing J; Wang, Cheng C; Zhang, Yi Y; Xu, Lingyan L; Fang, Weijia W; Zhu, Yuping Y; Zheng, Yi Y; Chen, Xiaofeng X; Xie, Xiju X; Hu, Xinhua X; Hu, Weidong W; Zheng, Jingyu J; Li, Ping P; Yu, Jian J; Mei, Zhu Z; Cai, Xiaomin X; Wang, Biao B; Hu, Zhibin Z; Shu, Yongqian Y; Shen, Hongbing H; Gu, Yanhong Y
Publication Date: 2019-07-18

Variant appearance in text: POLE: R52Q
PubMed Link: 31320627
Variant Present in the following documents:
  • 41467_2019_10987_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: POLE: R52Q; rs372459649
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page