ALK c.3776G>A ;(p.C1259Y)

Variant ID: 2-29432712-C-T

NM_004304.4(ALK):c.3776G>A;(p.C1259Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Dramatic Response to Lorlatinib in a Patient With CD74-ROS1-Positive Lung Adenocarcinoma With Acquired F2004V Mutation.

Jco Precision Oncology
Dimou, Anastasios A; Ou, Sai-Hong I SI; Doebele, Robert C RC
Publication Date: 2019

Variant appearance in text: ALK: C1259Y
PubMed Link: 32914039
Variant Present in the following documents:
  • PO.19.00013.pdf
View BVdb publication page



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: ALK: C1259Y
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: ALK: 3776G>A; Cys1259Tyr
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
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: ALK: C1259Y
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page