ALK c.3575G>C ;(p.R1192P)

Variant ID: 2-29443642-C-G

NM_004304.4(ALK):c.3575G>C;(p.R1192P)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.

Nature Communications
Berko, Esther R ER; Witek, Gabriela M GM; Matkar, Smita S; Petrova, Zaritza O ZO; Wu, Megan A MA; Smith, Courtney M CM; Daniels, Alex A; Kalna, Joshua J; Kennedy, Annie A; Gostuski, Ivan I; Casey, Colleen C; Krytska, Kateryna K; Gerelus, Mark M; Pavlick, Dean D; Ghazarian, Susan S; Park, Julie R JR; Marachelian, Araz A; Maris, John M JM; Goldsmith, Kelly C KC; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2023-05-05

Variant appearance in text: ALK: R1192P
PubMed Link: 37147298
Variant Present in the following documents:
  • 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Case report: Epithelioid inflammatory myofibroblastic sarcoma treated with an ALK TKI ensartinib.

Frontiers In Oncology
Li, Mengmeng M; Xing, Ruyue R; Huang, Jiuyan J; Shi, Chao C; Wei, Chunhua C; Wang, Huijuan H
Publication Date: 2023

Variant appearance in text: ALK: R1192P
PubMed Link: 37035183
Variant Present in the following documents:
  • Main text
  • fonc-13-1084456.pdf
View BVdb publication page



Classical ALK G1202R resistance mutation was identified in a lung adenocarcinoma patient with rare LOC388942-ALK fusion after sequential treatment with ALK-TKIs and anlotinib: a case report.

Annals Of Translational Medicine
Zhai, Xiaoqian X; Liu, Yanyang Y; Liang, Zuoyu Z; Wang, Weiya W; Qin, Tian T; Liu, Stephen V SV; Um, Sang-Won SW; Luo, Feng F; Liu, Jiewei J
Publication Date: 2022-11

Variant appearance in text: ALK: R1192P
PubMed Link: 36467355
Variant Present in the following documents:
  • Main text
  • atm-10-21-1180.pdf
View BVdb publication page



Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: ALK: R1192P
PubMed Link: 35966080
Variant Present in the following documents:
  • fendo-13-921645.pdf
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: ALK: 3575G>C; R1192P
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Durable Clinical Response to ALK Tyrosine Kinase Inhibitors in Epithelioid Inflammatory Myofibroblastic Sarcoma Harboring PRRC2B-ALK Rearrangement: A Case Report.

Frontiers In Oncology
Wang, Zhan Z; Geng, Yan Y; Yuan, Ling-Yan LY; Wang, Miao-Miao MM; Ye, Chen-Yang CY; Sun, Li L; Dai, Wei-Ping WP; Zang, Yuan-Sheng YS
Publication Date: 2022

Variant appearance in text: ALK: R1192P
PubMed Link: 35237506
Variant Present in the following documents:
  • Main text
  • fonc-12-761558.pdf
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: ALK: R1192P
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



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: Arg1192Pro
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Therapeutic advances in non-small cell lung cancer: Focus on clinical development of targeted therapy and immunotherapy.

Medcomm
Cheng, Yuan Y; Zhang, Tao T; Xu, Qing Q
Publication Date: 2021-12

Variant appearance in text: ALK: R1192P
PubMed Link: 34977873
Variant Present in the following documents:
  • MCO2-2-692.pdf
View BVdb publication page



Resistance to Targeted Agents Used to Treat Paediatric ALK-Positive ALCL.

Cancers
Hare, Lucy L; Burke, G A Amos GAA; Turner, Suzanne D SD
Publication Date: 2021-11-29

Variant appearance in text: ALK: R1192P
PubMed Link: 34885113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Resistance to Targeted Agents Used to Treat Paediatric ALK-Positive ALCL.

Cancers
Hare, Lucy L; Burke, G A Amos GAA; Turner, Suzanne D SD
Publication Date: 2021-11-29

Variant appearance in text: ALK: R1192P
PubMed Link: 34885113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early identification of disease progression in ALK-rearranged lung cancer using circulating tumor DNA analysis.

Npj Precision Oncology
Angeles, Arlou Kristina AK; Christopoulos, Petros P; Yuan, Zhao Z; Bauer, Simone S; Janke, Florian F; Ogrodnik, Simon John SJ; Reck, Martin M; Schlesner, Matthias M; Meister, Michael M; Schneider, Marc A MA; Dietz, Steffen S; Stenzinger, Albrecht A; Thomas, Michael M; Sültmann, Holger H
Publication Date: 2021-12-07

Variant appearance in text: ALK: 3575G>C; R1192P
PubMed Link: 34876698
Variant Present in the following documents:
  • 41698_2021_239_MOESM1_ESM.pdf
View BVdb publication page



Defining Pathological Activities of ALK in Neuroblastoma, a Neural Crest-Derived Cancer.

International Journal Of Molecular Sciences
Wulf, Anna M AM; Moreno, Marcela M MM; Paka, Chloé C; Rampasekova, Alexandra A; Liu, Karen J KJ
Publication Date: 2021-10-29

Variant appearance in text: ALK: R1192P
PubMed Link: 34769149
Variant Present in the following documents:
  • Main text
  • ijms-22-11718.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: ALK: R1192P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Therapeutic Targeting of the Anaplastic Lymphoma Kinase (ALK) in Neuroblastoma-A Comprehensive Update.

Pharmaceutics
Brenner, Annette K AK; Gunnes, Maria W MW
Publication Date: 2021-09-08

Variant appearance in text: ALK: R1192P
PubMed Link: 34575503
Variant Present in the following documents:
  • Main text
  • pharmaceutics-13-01427.pdf
View BVdb publication page



Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature.

Esmo Open
Heregger, R R; Huemer, F F; Hutarew, G G; Hecht, S S; Cheveresan, L L; Kotzot, D D; Schamschula, E E; Rinnerthaler, G G; Melchardt, T T; Weiss, L L; Greil, R R
Publication Date: 2021-08

Variant appearance in text: ALK: 3575G>C; R1192P
PubMed Link: 34371380
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed ALK F1174L-mutated neuroblastoma.

Cold Spring Harbor Molecular Case Studies
Liu, Tingting T; Merguerian, Matthew D MD; Rowe, Steven P SP; Pratilas, Christine A CA; Chen, Allen R AR; Ladle, Brian H BH
Publication Date: 2021-08

Variant appearance in text: ALK: R1192P
PubMed Link: 34210658
Variant Present in the following documents:
  • Main text
  • MCS006064Liu.pdf
View BVdb publication page



Genetics of congenital solid tumors.

Romanian Journal Of Morphology And Embryology = Revue Roumaine De Morphologie Et Embryologie
Jurcă, Maria Claudia MC; Ivaşcu, Marius Evelin ME; Jurcă, Aurora Alexandra AA; Kozma, Kinga K; Magyar, Ioan I; Şandor, Mircea Ioan MI; Jurcă, Alexandru Daniel AD; Zaha, Dana Carmen DC; Albu, Cristina Crenguţa CC; Pantiş, Carmen C; Bembea, Marius M; Petcheşi, Codruţa Diana CD
Publication Date: 2020

Variant appearance in text: ALK: R1192P
PubMed Link: 34171053
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of the biological and clinical implications of RAS-MAPK pathway alterations in neuroblastoma.

Journal Of Experimental & Clinical Cancer Research : Cr
Mlakar, Vid V; Morel, Edouard E; Mlakar, Simona Jurkovic SJ; Ansari, Marc M; Gumy-Pause, Fabienne F
Publication Date: 2021-06-08

Variant appearance in text: ALK: R1192P
PubMed Link: 34103089
Variant Present in the following documents:
  • Main text
  • 13046_2021_Article_1967.pdf
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: R1192P
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



Molecular Epidemiology of the Main Druggable Genetic Alterations in Non-Small Cell Lung Cancer.

International Journal Of Molecular Sciences
Fois, Sara S SS; Paliogiannis, Panagiotis P; Zinellu, Angelo A; Fois, Alessandro G AG; Cossu, Antonio A; Palmieri, Giuseppe G
Publication Date: 2021-01-09

Variant appearance in text: ALK: R1192P
PubMed Link: 33435440
Variant Present in the following documents:
  • Main text
  • ijms-22-00612.pdf
View BVdb publication page



Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA.

Ebiomedicine
Dietz, Steffen S; Christopoulos, Petros P; Yuan, Zhao Z; Angeles, Arlou Kristina AK; Gu, Lisa L; Volckmar, Anna-Lena AL; Ogrodnik, Simon J SJ; Janke, Florian F; Fratte, Chiara Dalle CD; Zemojtel, Tomasz T; Schneider, Marc A MA; Kazdal, Daniel D; Endris, Volker V; Meister, Michael M; Muley, Thomas T; Cecchin, Erika E; Reck, Martin M; Schlesner, Matthias M; Thomas, Michael M; Stenzinger, Albrecht A; Sültmann, Holger H
Publication Date: 2020-12

Variant appearance in text: ALK: 3575G>C; Arg1192Pro
PubMed Link: 33161228
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: R1192P
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Nervous system: Embryonal tumors: Neuroblastoma.

Atlas Of Genetics And Cytogenetics In Oncology And Haematology
Pudela, Caileigh C; Balyasny, Skye S; Applebaum, Mark A MA
Publication Date: 2020-07

Variant appearance in text: ALK: R1192P
PubMed Link: 32296467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ALK: R1192P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Overcoming resistance by ALK compound mutation (I1171S + G1269A) after sequential treatment of multiple ALK inhibitors in non-small cell lung cancer.

Thoracic Cancer
Takahashi, Ken K; Seto, Yosuke Y; Okada, Koutaroh K; Uematsu, Shinya S; Uchibori, Ken K; Tsukahara, Mika M; Oh-Hara, Tomoko T; Fujita, Naoya N; Yanagitani, Noriko N; Nishio, Makoto M; Okubo, Kenichi K; Katayama, Ryohei R
Publication Date: 2020-03

Variant appearance in text: ALK: R1192P
PubMed Link: 31943796
Variant Present in the following documents:
  • Main text
  • TCA-11-581.pdf
View BVdb publication page



Repotrectinib (TPX-0005), effectively reduces growth of ALK driven neuroblastoma cells.

Scientific Reports
Cervantes-Madrid, Diana D; Szydzik, Joanna J; Lind, Dan Emil DE; Borenäs, Marcus M; Bemark, Mats M; Cui, Jean J; Palmer, Ruth Helen RH; Hallberg, Bengt B
Publication Date: 2019-12-18

Variant appearance in text: ALK: R1192P
PubMed Link: 31852910
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55060.pdf
View BVdb publication page



Alectinib, an Anaplastic Lymphoma Kinase Inhibitor, Abolishes ALK Activity and Growth in ALK-Positive Neuroblastoma Cells.

Frontiers In Oncology
Alam, Muhammad Wasi MW; Borenäs, Marcus M; Lind, Dan E DE; Cervantes-Madrid, Diana D; Umapathy, Ganesh G; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2019

Variant appearance in text: ALK: R1192P
PubMed Link: 31334113
Variant Present in the following documents:
  • Main text
  • fonc-09-00579.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: R1192P
PubMed Link: 30982079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting anaplastic lymphoma kinase in neuroblastoma.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
Umapathy, Ganesh G; Mendoza-Garcia, Patricia P; Hallberg, Bengt B; Palmer, Ruth H RH
Publication Date: 2019-05

Variant appearance in text: ALK: R1192P
PubMed Link: 30803032
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data.

Npj Precision Oncology
Patterson, Sara E SE; Statz, Cara M CM; Yin, Taofei T; Mockus, Susan M SM
Publication Date: 2019

Variant appearance in text: ALK: R1192P
PubMed Link: 30675517
Variant Present in the following documents:
  • Main text
  • 41698_2018_Article_73.pdf
View BVdb publication page



Entrectinib and other ALK/TRK inhibitors for the treatment of neuroblastoma.

Drug Design, Development And Therapy
Pacenta, Holly L HL; Macy, Margaret E ME
Publication Date: 2018

Variant appearance in text: ALK: R1192P
PubMed Link: 30425456
Variant Present in the following documents:
  • Main text
  • dddt-12-3549.pdf
View BVdb publication page



Anaplastic Lymphoma Kinase (ALK) Receptor Tyrosine Kinase: A Catalytic Receptor with Many Faces.

International Journal Of Molecular Sciences
Huang, Hao H
Publication Date: 2018-11-02

Variant appearance in text: ALK: R1192P
PubMed Link: 30400214
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reviving B-Factors: Activating ALK Mutations Increase Protein Dynamics of the Unphosphorylated Kinase.

Acs Medicinal Chemistry Letters
Johnson, Ted W TW; Bolanos, Ben B; Brooun, Alexei A; Gallego, Rebecca A RA; Gehlhaar, Dan D; Jalaie, Mehran M; McTigue, Michele M; Timofeevski, Sergei S
Publication Date: 2018-09-13

Variant appearance in text: ALK: R1192P
PubMed Link: 30258533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Predisposition to Neuroblastoma.

Children (Basel, Switzerland)
Barr, Erin K EK; Applebaum, Mark A MA
Publication Date: 2018-08-31

Variant appearance in text: ALK: R1192P
PubMed Link: 30200332
Variant Present in the following documents:
  • Main text
  • children-05-00119.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: R1192P
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: R1192P
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib.

Cold Spring Harbor Molecular Case Studies
Guan, Jikui J; Fransson, Susanne S; Siaw, Joachim Tetteh JT; Treis, Diana D; Van den Eynden, Jimmy J; Chand, Damini D; Umapathy, Ganesh G; Ruuth, Kristina K; Svenberg, Petter P; Wessman, Sandra S; Shamikh, Alia A; Jacobsson, Hans H; Gordon, Lena L; Stenman, Jakob J; Svensson, Pär-Johan PJ; Hansson, Magnus M; Larsson, Erik E; Martinsson, Tommy T; Palmer, Ruth H RH; Kogner, Per P; Hallberg, Bengt B
Publication Date: 2018-08

Variant appearance in text: ALK: R1192P
PubMed Link: 29907598
Variant Present in the following documents:
  • Main text
  • MCS002550Gua.pdf
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: R1192P
PubMed Link: 29589100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget
Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P
Publication Date: 2017-12-12

Variant appearance in text: ALK: R1192P
PubMed Link: 29312610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis.

Oncotarget
Uryu, Kumiko K; Nishimura, Riki R; Kataoka, Keisuke K; Sato, Yusuke Y; Nakazawa, Atsuko A; Suzuki, Hiromichi H; Yoshida, Kenichi K; Seki, Masafumi M; Hiwatari, Mitsuteru M; Isobe, Tomoya T; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Miyano, Satoru S; Koh, Katsuyoshi K; Hanada, Ryoji R; Oka, Akira A; Hayashi, Yasuhide Y; Ohira, Miki M; Kamijo, Takehiko T; Nagase, Hiroki H; Takimoto, Tetsuya T; Tajiri, Tatsuro T; Nakagawara, Akira A; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2017-12-08

Variant appearance in text: ALK: R1192P
PubMed Link: 29296183
Variant Present in the following documents:
  • oncotarget-08-107513-s001.pdf
View BVdb publication page



The role of anaplastic lymphoma kinase in pediatric cancers.

Cancer Science
Takita, Junko J
Publication Date: 2017-10

Variant appearance in text: ALK: R1192P
PubMed Link: 28756644
Variant Present in the following documents:
  • Main text
  • CAS-108-1913.pdf
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: R1192P
PubMed Link: 28674118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ALK: 3575G>C; Arg1192Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



ALK: a tyrosine kinase target for cancer therapy.

Cold Spring Harbor Molecular Case Studies
Holla, Vijaykumar R VR; Elamin, Yasir Y YY; Bailey, Ann Marie AM; Johnson, Amber M AM; Litzenburger, Beate C BC; Khotskaya, Yekaterina B YB; Sanchez, Nora S NS; Zeng, Jia J; Shufean, Md Abu MA; Shaw, Kenna R KR; Mendelsohn, John J; Mills, Gordon B GB; Meric-Bernstam, Funda F; Simon, George R GR
Publication Date: 2017-01

Variant appearance in text: ALK: R1192P
PubMed Link: 28050598
Variant Present in the following documents:
  • Main text
  • HollaMCS001115.pdf
View BVdb publication page



The ALK inhibitor PF-06463922 is effective as a single agent in neuroblastoma driven by expression of ALK and MYCN.

Disease Models & Mechanisms
Guan, J J; Tucker, E R ER; Wan, H H; Chand, D D; Danielson, L S LS; Ruuth, K K; El Wakil, A A; Witek, B B; Jamin, Y Y; Umapathy, G G; Robinson, S P SP; Johnson, T W TW; Smeal, T T; Martinsson, T T; Chesler, L L; Palmer, R H RH; Hallberg, B B
Publication Date: 2016-09-01

Variant appearance in text: ALK: R1192P
PubMed Link: 27483357
Variant Present in the following documents:
  • Main text
View BVdb publication page



Brigatinib, an anaplastic lymphoma kinase inhibitor, abrogates activity and growth in ALK-positive neuroblastoma cells, Drosophila and mice.

Oncotarget
Siaw, Joachim T JT; Wan, Haiying H; Pfeifer, Kathrin K; Rivera, Victor M VM; Guan, Jikui J; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2016-05-17

Variant appearance in text: ALK: R1192P
PubMed Link: 27049722
Variant Present in the following documents:
  • Main text
  • oncotarget-07-29011.pdf
View BVdb publication page