APC c.2493dup ;(p.P832Tfs*12)

Variant ID: 5-112173783-T-TA

NM_000038.5(APC):c.2493dup;(p.P832Tfs*12)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.

Familial Cancer
Elsayed, Fadwa A FA; Tops, Carli M J CMJ; Nielsen, Maartje M; Morreau, Hans H; Hes, Frederik J FJ; van Wezel, Tom T
Publication Date: 2022-01

Variant appearance in text: APC: 2493dupA
PubMed Link: 33683519
Variant Present in the following documents:
  • Main text
  • 10689_2021_Article_236.pdf
View BVdb publication page



Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.

Familial Cancer
Elsayed, Fadwa A FA; Tops, Carli M J CMJ; Nielsen, Maartje M; Morreau, Hans H; Hes, Frederik J FJ; van Wezel, Tom T
Publication Date: 2021-03-08

Variant appearance in text: APC: 2493dupA
PubMed Link: 33683519
Variant Present in the following documents:
  • Main text
  • 10689_2021_Article_236.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: APC: P832Tfs*12
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: APC: Pro832ThrfsX12
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
View BVdb publication page