APC c.1972G>T ;(p.E658*)

Variant ID: 5-112173263-G-T

NM_000038.5(APC):c.1972G>T;(p.E658*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut
Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ
Publication Date: 2020-06

Variant appearance in text: APC: 1972G>T; Glu658Ter
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Whole Genome Sequencing Analysis of a Stage IV Colon Cancer Patient with a 10-Year Disease-Free Survival following Systemic Chemotherapy/Bevacizumab.

Case Reports In Gastroenterology
Yeatman, Timothy J TJ; Yang, Mingli M; Coppola, Domenico D
Publication Date: 2018

Variant appearance in text: APC: E658*
PubMed Link: 30631260
Variant Present in the following documents:
  • Main text
  • crg-0012-0729.pdf
View BVdb publication page



A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

Nature Communications
Schell, Michael J MJ; Yang, Mingli M; Teer, Jamie K JK; Lo, Fang Yin FY; Madan, Anup A; Coppola, Domenico D; Monteiro, Alvaro N A AN; Nebozhyn, Michael V MV; Yue, Binglin B; Loboda, Andrey A; Bien-Willner, Gabriel A GA; Greenawalt, Danielle M DM; Yeatman, Timothy J TJ
Publication Date: 2016-06-15

Variant appearance in text: APC: E658*
PubMed Link: 27302369
Variant Present in the following documents:
  • ncomms11743-s3.xlsx, sheet 1
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 1972G>T; Glu658X
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page