POLE c.1102G>A ;(p.D368N)

Variant ID: 12-133252325-C-T

NM_006231.2(POLE):c.1102G>A;(p.D368N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: D368N
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



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: D368N
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine
Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W
Publication Date: 2014-12

Variant appearance in text: POLE: 1102G>A; D368N
PubMed Link: 25124163
Variant Present in the following documents:
  • Main text
  • cam40003-1527.pdf
View BVdb publication page