EGFR c.2249C>T ;(p.A750V)

Variant ID: 7-55242479-C-T

NM_005228.3(EGFR):c.2249C>T;(p.A750V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: EGFR: A750V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: EGFR: A750V
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Afatinib in Non-Small Cell Lung Cancer Harboring Uncommon EGFR Mutations Pretreated With Reversible EGFR Inhibitors.

The Oncologist
Heigener, David F DF; Schumann, Christian C; Sebastian, Martin M; Sadjadian, Parvis P; Stehle, Ingo I; Märten, Angela A; Lüers, Anne A; Griesinger, Frank F; Scheffler, Matthias M; ,
Publication Date: 2015-10

Variant appearance in text: EGFR: A750V
PubMed Link: 26354527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: EGFR: A750V
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil- DNA glycosylase.

Oncotarget
Do, Hongdo H; Dobrovic, Alexander A
Publication Date: 2012-05

Variant appearance in text: EGFR: 2249C>T
PubMed Link: 22643842
Variant Present in the following documents:
  • oncotarget-03-546.pdf
View BVdb publication page