POLE c.3373C>T ;(p.R1125*)

Variant ID: 12-133234459-G-A

NM_006231.2(POLE):c.3373C>T;(p.R1125*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: POLE: 3373C>T; R1125*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: POLE: 3373C>T; Arg1125*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: POLE: 3373C>T; Arg1125*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 1
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: 3373C>T; Arg1125Ter; rs139603739
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: POLE: R1125X
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology
León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB
Publication Date: 2020-03

Variant appearance in text: POLE: 3373C>T; R1125*
PubMed Link: 31829442
Variant Present in the following documents:
  • PATH-250-323-s002.xlsx, sheet 2
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs139603739
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: POLE: R1125*
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-9.xlsx, sheet 1
View BVdb publication page