POLE c.1138G>T ;(p.G380C)

Variant ID: 12-133252072-C-A

NM_006231.2(POLE):c.1138G>T;(p.G380C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma.

Genome Medicine
Meiller, Clément C; Montagne, François F; Hirsch, Theo Z TZ; Caruso, Stefano S; de Wolf, Julien J; Bayard, Quentin Q; Assié, Jean-Baptiste JB; Meunier, Léa L; Blum, Yuna Y; Quetel, Lisa L; Gibault, Laure L; Pintilie, Ecaterina E; Badoual, Cécile C; Humez, Sarah S; Galateau-Sallé, Françoise F; Copin, Marie-Christine MC; Letouzé, Eric E; Scherpereel, Arnaud A; Zucman-Rossi, Jessica J; Le Pimpec-Barthes, Françoise F; Jaurand, Marie-Claude MC; Jean, Didier D
Publication Date: 2021-07-14

Variant appearance in text: POLE: 1138G>T; Gly380Cys
PubMed Link: 34261524
Variant Present in the following documents:
  • 13073_2021_931_MOESM1_ESM.xlsx, sheet 3
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: 1138G>T; G380C; rs199746481
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Role of POLE and POLD1 in familial cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L
Publication Date: 2020-12

Variant appearance in text: POLE: 1138G>T; Gly380Cys; rs199746481
PubMed Link: 32792570
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_922.pdf
  • 41436_2020_922_MOESM1_ESM.pdf
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: POLE: G380C
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: G380C
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
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: rs199746481
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page