POLE c.43_44delinsTA ;(p.A15*)

Variant ID: 12-133263858-GC-TA

NM_006231.2(POLE):c.43_44delinsTA;(p.A15*)

This variant was identified in 7 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: A15X
PubMed Link: 34731645
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
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: A15X
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: A15X
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: A15X
PubMed Link: 34016103
Variant Present in the following documents:
  • 12935_2021_1965_MOESM4_ESM.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: A15X
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: A15X
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-3.xlsx, sheet 1
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: A15X
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
  • genes-08-00201.pdf
View BVdb publication page