POLE c.31_33delinsAAC ;(p.A11N)

Variant ID: 12-133263869-CGC-GTT

NM_006231.2(POLE):c.31_33delinsAAC;(p.A11N)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: POLE: A11N
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: A11N
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: A11N
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: A11N
PubMed Link: 34429855
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
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: A11N
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: A11N
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: A11N
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: A11N
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: A11N
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-3.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: POLE: A11N
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s006.pdf
  • PATH-245-283-s004.pdf
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: A11N
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: A11N
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: A11N
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s005.xlsx, sheet 1
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: A11N
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: A11N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



A TrkB-STAT3-miR-204-5p regulatory circuitry controls proliferation and invasion of endometrial carcinoma cells.

Molecular Cancer
Bao, Wei W; Wang, Hui-Hui HH; Tian, Fu-Ju FJ; He, Xiao-Ying XY; Qiu, Mei-Ting MT; Wang, Jing-Yun JY; Zhang, Hui-Juan HJ; Wang, Li-Hua LH; Wan, Xiao-Ping XP
Publication Date: 2013-12-09

Variant appearance in text: POLE: A11N
PubMed Link: 24321270
Variant Present in the following documents:
  • 1476-4598-12-155-S5.xls, sheet 4
  • 1476-4598-12-155-S5.xls, sheet 5
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: A11N
PubMed Link: 23528559
Variant Present in the following documents:
  • supp_ddt131_ddt131supp.pdf
View BVdb publication page