ALK c.3610C>T ;(p.L1204F)

Variant ID: 2-29443607-G-A

NM_004304.4(ALK):c.3610C>T;(p.L1204F)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: ALK: 3610C>T; L1204F
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ALK: L1204F
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Patil, Keshav K; Jordan, Earl Joseph EJ; Park, Jin H JH; Suresh, Krishna K; Smith, Courtney M CM; Lemmon, Abigail A AA; Mossé, Yaël P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2021-03-09

Variant appearance in text: ALK: L1204F
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



Computational algorithms for in silico profiling of activating mutations in cancer.

Cellular And Molecular Life Sciences : Cmls
Jordan, E Joseph EJ; Patil, Keshav K; Suresh, Krishna K; Park, Jin H JH; Mosse, Yael P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2019-07

Variant appearance in text: ALK: L1204F
PubMed Link: 30982079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: ALK: 3610C>T
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: ALK: 3610C>T
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Cell And Tissue Research
Ritenour, Laura E LE; Randall, Michael P MP; Bosse, Kristopher R KR; Diskin, Sharon J SJ
Publication Date: 2018-05

Variant appearance in text: ALK: L1204F
PubMed Link: 29589100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retinoblastoma and Neuroblastoma Predisposition and Surveillance.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Kamihara, Junne J; Bourdeaut, Franck F; Foulkes, William D WD; Molenaar, Jan J JJ; Mossé, Yaël P YP; Nakagawara, Akira A; Parareda, Andreu A; Scollon, Sarah R SR; Schneider, Kami Wolfe KW; Skalet, Alison H AH; States, Lisa J LJ; Walsh, Michael F MF; Diller, Lisa R LR; Brodeur, Garrett M GM
Publication Date: 2017-07-01

Variant appearance in text: ALK: L1204F
PubMed Link: 28674118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Mossé, Yael P YP
Publication Date: 2016-02-01

Variant appearance in text: ALK: L1204F
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Cancer Cell
Bresler, Scott C SC; Weiser, Daniel A DA; Huwe, Peter J PJ; Park, Jin H JH; Krytska, Kateryna K; Ryles, Hannah H; Laudenslager, Marci M; Rappaport, Eric F EF; Wood, Andrew C AC; McGrady, Patrick W PW; Hogarty, Michael D MD; London, Wendy B WB; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2014-11-10

Variant appearance in text: ALK: L1204F
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page