POLE c.2065C>T ;(p.Q689*)

Variant ID: 12-133245050-G-A

NM_006231.2(POLE):c.2065C>T;(p.Q689*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Iscience
Ishikawa, Tomohiko T; Ogawa, Takenori T; Shiihara, Masahiro M; Usubuchi, Hajime H; Omori, Yuko Y; Hirose, Katsuya K; Itoh, Taito T; Yoshida, Takuya T; Nakanome, Ayako A; Okoshi, Akira A; Higashi, Kenjiro K; Ishii, Ryo R; Rokugo, Masahiro M; Wakamori, Shun S; Okamura, Yasunobu Y; Kinoshita, Kengo K; Katori, Yukio Y; Furukawa, Toru T
Publication Date: 2023-05-19

Variant appearance in text: POLE: 2065C>T
PubMed Link: 37207275
Variant Present in the following documents:
  • mmc7.xlsx, sheet 1
View BVdb publication page



Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg
Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H
Publication Date: 2016-07

Variant appearance in text: POLE: 2065C>T
PubMed Link: 26648449
Variant Present in the following documents:
  • ejhg2015252x4.xlsx, sheet 1
View BVdb publication page