POLE c.31_33delinsCAT ;(p.A11H)

Variant ID: 12-133263869-CGC-ATG

NM_006231.2(POLE):c.31_33delinsCAT;(p.A11H)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer.

Cell Systems
Ciani, Yari Y; Fedrizzi, Tarcisio T; Prandi, Davide D; Lorenzin, Francesca F; Locallo, Alessio A; Gasperini, Paola P; Franceschini, Gian Marco GM; Benelli, Matteo M; Elemento, Olivier O; Fava, Luca L LL; Inga, Alberto A; Demichelis, Francesca F
Publication Date: 2022-02-16

Variant appearance in text: POLE: A11H
PubMed Link: 34731645
Variant Present in the following documents:
  • mmc2.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: A11H
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



Fast mutual exclusivity algorithm nominates potential synthetic lethal gene pairs through brute force matrix product computations.

Computational And Structural Biotechnology Journal
Fedrizzi, Tarcisio T; Ciani, Yari Y; Lorenzin, Francesca F; Cantore, Thomas T; Gasperini, Paola P; Demichelis, Francesca F
Publication Date: 2021

Variant appearance in text: POLE: A11H
PubMed Link: 34429855
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Elevated expression of LPCAT1 predicts a poor prognosis and is correlated with the tumour microenvironment in endometrial cancer.

Cancer Cell International
Zhao, Tianyi T; Zhang, Yifang Y; Ma, Xiaohong X; Wei, Lina L; Hou, Yixin Y; Sun, Rui R; Jiang, Jie J
Publication Date: 2021-05-20

Variant appearance in text: POLE: A11H
PubMed Link: 34016103
Variant Present in the following documents:
  • 12935_2021_1965_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer inference of intra-tumor heterogeneity reveals associations with different forms of genomic instability.

Plos Genetics
Raynaud, Franck F; Mina, Marco M; Tavernari, Daniele D; Ciriello, Giovanni G
Publication Date: 2018-09

Variant appearance in text: POLE: A11H
PubMed Link: 30212491
Variant Present in the following documents:
  • pgen.1007669.s008.xlsx, sheet 1
View BVdb publication page



Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.

Nature Communications
Haradhvala, N J NJ; Kim, J J; Maruvka, Y E YE; Polak, P P; Rosebrock, D D; Livitz, D D; Hess, J M JM; Leshchiner, I I; Kamburov, A A; Mouw, K W KW; Lawrence, M S MS; Getz, G G
Publication Date: 2018-05-01

Variant appearance in text: POLE: A11H
PubMed Link: 29717118
Variant Present in the following documents:
  • 41467_2018_4002_MOESM1_ESM.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: POLE: A11H
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-3.xlsx, sheet 1
View BVdb publication page



Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports
Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM
Publication Date: 2018-03-12

Variant appearance in text: POLE: A11H
PubMed Link: 29531238
Variant Present in the following documents:
  • 41598_2018_22345_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Ornithine decarboxylase as a therapeutic target for endometrial cancer.

Plos One
Kim, Hong Im HI; Schultz, Chad R CR; Buras, Andrea L AL; Friedman, Elizabeth E; Fedorko, Alyssa A; Seamon, Leigh L; Chandramouli, Gadisetti V R GVR; Maxwell, G Larry GL; Bachmann, André S AS; Risinger, John I JI
Publication Date: 2017

Variant appearance in text: POLE: A11H
PubMed Link: 29240775
Variant Present in the following documents:
  • pone.0189044.s004.xlsx, sheet 3
View BVdb publication page



Mutation Clusters from Cancer Exome.

Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15

Variant appearance in text: POLE: A11H
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: POLE: A11H
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s005.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: POLE: A11H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Long non-coding RNA profiling links subgroup classification of endometrioid endometrial carcinomas with trithorax and polycomb complex aberrations.

Oncotarget
Jiang, Yunyun Y; Malouf, Gabriel G GG; Zhang, Jianping J; Zheng, Xiaofeng X; Chen, Yunxin Y; Thompson, Erika J EJ; Weinstein, John N JN; Yuan, Ying Y; Spano, Jean-Philippe JP; Broaddus, Russell R; Tannir, Nizar M NM; Khayat, David D; Lu, Karen H KH; Su, Xiaoping X
Publication Date: 2015-11-24

Variant appearance in text: POLE: A11H
PubMed Link: 26431491
Variant Present in the following documents:
  • oncotarget-06-39865-s002.xlsx, sheet 11
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: POLE: A11H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer
Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ
Publication Date: 2015-02-01

Variant appearance in text: POLE: A11H
PubMed Link: 25224212
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics
Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP
Publication Date: 2013-07-15

Variant appearance in text: POLE: A11H
PubMed Link: 23528559
Variant Present in the following documents:
  • supp_ddt131_ddt131supp.pdf
View BVdb publication page