ALK c.1043C>A ;(p.A348D)

Variant ID: 2-29754892-G-T

NM_004304.4(ALK):c.1043C>A;(p.A348D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: ALK: Ala348Asp
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01

Variant appearance in text: ALK: 1043C>A; Ala348Asp; rs760596486
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17

Variant appearance in text: ALK: 1043C>A; Ala348Asp; rs760596486
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Tyrosine Kinase Receptors in Oncology.

International Journal Of Molecular Sciences
Esteban-Villarrubia, Jorge J; Soto-Castillo, Juan José JJ; Pozas, Javier J; San Román-Gil, María M; Orejana-Martín, Inmaculada I; Torres-Jiménez, Javier J; Carrato, Alfredo A; Alonso-Gordoa, Teresa T; Molina-Cerrillo, Javier J
Publication Date: 2020-11-12

Variant appearance in text: ALK: A348D
PubMed Link: 33198314
Variant Present in the following documents:
  • Main text
  • ijms-21-08529.pdf
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: ALK: A348D
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: ALK: A348D
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Therapeutically Targetable ALK Mutations in Leukemia.

Cancer Research
Maxson, Julia E JE; Davare, Monika A MA; Luty, Samuel B SB; Eide, Christopher A CA; Chang, Bill H BH; Loriaux, Marc M MM; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; McWeeney, Shannon K SK; Druker, Brian J BJ; Tyner, Jeffrey W JW
Publication Date: 2015-06-01

Variant appearance in text: ALK: A348D
PubMed Link: 26032424
Variant Present in the following documents:
  • Main text
View BVdb publication page