POLE c.890C>G ;(p.S297C)

Variant ID: 12-133253151-G-C

NM_006231.2(POLE):c.890C>G;(p.S297C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Biomolecules
Schamschula, Esther E; Kinzel, Miriam M; Wernstedt, Annekatrin A; Oberhuber, Klaus K; Gottschling, Hendrik H; Schnaiter, Simon S; Friedrichs, Nicolaus N; Merkelbach-Bruse, Sabine S; Zschocke, Johannes J; Gallon, Richard R; Wimmer, Katharina K
Publication Date: 2022-09-22

Variant appearance in text: POLE: 890C>G; S297C
PubMed Link: 36291559
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01350.pdf
View BVdb publication page



Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.

Npj Precision Oncology
Berrino, Enrico E; Filippi, Roberto R; Visintin, Clara C; Peirone, Serena S; Fenocchio, Elisabetta E; Farinea, Giovanni G; Veglio, Franco F; Aglietta, Massimo M; Sapino, Anna A; Cereda, Matteo M; Visintin, Rosella R; Pasini, Barbara B; Marchiò, Caterina C
Publication Date: 2022-03-08

Variant appearance in text: POLE: 890C>G
PubMed Link: 35260767
Variant Present in the following documents:
  • Main text
  • 41698_2022_Article_258.pdf
View BVdb publication page