ALK c.3733T>A ;(p.F1245I)

Variant ID: 2-29436860-A-T

NM_004304.4(ALK):c.3733T>A;(p.F1245I)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Genomic ALK alterations in primary and relapsed neuroblastoma.

British Journal Of Cancer
Rosswog, Carolina C; Fassunke, Jana J; Ernst, Angela A; Schömig-Markiefka, Birgid B; Merkelbach-Bruse, Sabine S; Bartenhagen, Christoph C; Cartolano, Maria M; Ackermann, Sandra S; Theissen, Jessica J; Blattner-Johnson, Mirjam M; Jones, Barbara B; Schramm, Kathrin K; Altmüller, Janine J; Nürnberg, Peter P; Ortmann, Monika M; Berthold, Frank F; Peifer, Martin M; Büttner, Reinhard R; Westermann, Frank F; Schulte, Johannes H JH; Simon, Thorsten T; Hero, Barbara B; Fischer, Matthias M
Publication Date: 2023-02-17

Variant appearance in text: ALK: F1245I
PubMed Link: 36807339
Variant Present in the following documents:
  • 41416_2023_2208_MOESM1_ESM.pdf
  • 41416_2023_Article_2208.pdf
View BVdb publication page



Skeletal muscle metastases in neuroblastoma share common progenitors with primary tumor and biologically resemble stage MS disease.

Frontiers In Oncology
Fong, Christina C; Kushner, Brian H BH; Di Giannatale, Angela A; Gundem, Gunes G; Li, Shanita S; Roberts, Stephen S SS; Basu, Ellen M EM; Price, Anita A; Cheung, Nai-Kong V NV; Modak, Shakeel S
Publication Date: 2022

Variant appearance in text: ALK: F1245I
PubMed Link: 36686814
Variant Present in the following documents:
  • Main text
  • fonc-12-1106597.pdf
View BVdb publication page



Circulating tumor cells in neuroblastoma: Current status and future perspectives.

Cancer Medicine
Yang, Ran R; Zheng, Shan S; Dong, Rui R
Publication Date: 2022-05-27

Variant appearance in text: ALK: F1245I
PubMed Link: 35632981
Variant Present in the following documents:
  • Main text
  • CAM4-12-7.pdf
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: ALK: 3733T>A
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Targeting Oncogenic Transcriptional Networks in Neuroblastoma: From N-Myc to Epigenetic Drugs.

International Journal Of Molecular Sciences
Ciaccio, Roberto R; De Rosa, Piergiuseppe P; Aloisi, Sara S; Viggiano, Marta M; Cimadom, Leonardo L; Zadran, Suleman Khan SK; Perini, Giovanni G; Milazzo, Giorgio G
Publication Date: 2021-11-28

Variant appearance in text: ALK: Phe1245Ile
PubMed Link: 34884690
Variant Present in the following documents:
  • Main text
  • ijms-22-12883.pdf
View BVdb publication page



Targeting Oncogenic Transcriptional Networks in Neuroblastoma: From N-Myc to Epigenetic Drugs.

International Journal Of Molecular Sciences
Ciaccio, Roberto R; De Rosa, Piergiuseppe P; Aloisi, Sara S; Viggiano, Marta M; Cimadom, Leonardo L; Zadran, Suleman Khan SK; Perini, Giovanni G; Milazzo, Giorgio G
Publication Date: 2021-11-28

Variant appearance in text: ALK: Phe1245Ile
PubMed Link: 34884690
Variant Present in the following documents:
  • Main text
  • ijms-22-12883.pdf
View BVdb publication page



Neuroblastoma Molecular Risk-Stratification of DNA Copy Number and ALK Genotyping via Cell-Free Circulating Tumor DNA Profiling.

Cancers
Kahana-Edwin, Smadar S; Cain, Lucy E LE; McCowage, Geoffrey G; Darmanian, Artur A; Wright, Dale D; Mullins, Anna A; Saletta, Federica F; Karpelowsky, Jonathan J
Publication Date: 2021-07-05

Variant appearance in text: ALK: 3733T>A; F1245I
PubMed Link: 34282791
Variant Present in the following documents:
  • Main text
  • cancers-13-03365.pdf
View BVdb publication page



Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1).

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Bellini, Angela A; Pötschger, Ulrike U; Bernard, Virginie V; Lapouble, Eve E; Baulande, Sylvain S; Ambros, Peter F PF; Auger, Nathalie N; Beiske, Klaus K; Bernkopf, Marie M; Betts, David R DR; Bhalshankar, Jaydutt J; Bown, Nick N; de Preter, Katleen K; Clément, Nathalie N; Combaret, Valérie V; Font de Mora, Jaime J; George, Sally L SL; Jiménez, Irene I; Jeison, Marta M; Marques, Barbara B; Martinsson, Tommy T; Mazzocco, Katia K; Morini, Martina M; Mühlethaler-Mottet, Annick A; Noguera, Rosa R; Pierron, Gaelle G; Rossing, Maria M; Taschner-Mandl, Sabine S; Van Roy, Nadine N; Vicha, Ales A; Chesler, Louis L; Balwierz, Walentyna W; Castel, Victoria V; Elliott, Martin M; Kogner, Per P; Laureys, Geneviève G; Luksch, Roberto R; Malis, Josef J; Popovic-Beck, Maja M; Ash, Shifra S; Delattre, Olivier O; Valteau-Couanet, Dominique D; Tweddle, Deborah A DA; Ladenstein, Ruth R; Schleiermacher, Gudrun G
Publication Date: 2021-10-20

Variant appearance in text: ALK: F1245I
PubMed Link: 34115544
Variant Present in the following documents:
  • Main text
  • jco-39-3377.pdf
View BVdb publication page



Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome.

Nature Communications
Hartlieb, Sabine A SA; Sieverling, Lina L; Nadler-Holly, Michal M; Ziehm, Matthias M; Toprak, Umut H UH; Herrmann, Carl C; Ishaque, Naveed N; Okonechnikov, Konstantin K; Gartlgruber, Moritz M; Park, Young-Gyu YG; Wecht, Elisa Maria EM; Savelyeva, Larissa L; Henrich, Kai-Oliver KO; Rosswog, Carolina C; Fischer, Matthias M; Hero, Barbara B; Jones, David T W DTW; Pfaff, Elke E; Witt, Olaf O; Pfister, Stefan M SM; Volckmann, Richard R; Koster, Jan J; Kiesel, Katharina K; Rippe, Karsten K; Taschner-Mandl, Sabine S; Ambros, Peter P; Brors, Benedikt B; Selbach, Matthias M; Feuerbach, Lars L; Westermann, Frank F
Publication Date: 2021-02-24

Variant appearance in text: rs281864720
PubMed Link: 33627664
Variant Present in the following documents:
  • 41467_2021_21247_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications
Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2020-10-14

Variant appearance in text: ALK: F1245I
PubMed Link: 33056981
Variant Present in the following documents:
  • 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs281864720
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
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: F1245I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Jama Network Open
Khater, Fida F; Vairy, Stephanie S; Langlois, Sylvie S; Dumoucel, Sophie S; Sontag, Thomas T; St-Onge, Pascal P; Bittencourt, Henrique H; Dal Soglio, Dorothée D; Champagne, Josette J; Duval, Michel M; Leclerc, Jean-Marie JM; Laverdiere, Caroline C; Tran, Thai Hoa TH; Patey, Natalie N; Ellezam, Benjamin B; Perreault, Sébastien S; Piché, Nelson N; Samson, Yvan Y; Teira, Pierre P; Jabado, Nada N; Michon, Bruno B; Brossard, Josée J; Marzouki, Monia M; Cellot, Sonia S; Sinnett, Daniel D
Publication Date: 2019-04-05

Variant appearance in text: ALK: F1245I
PubMed Link: 31026031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment.

Scientific Reports
Javanmardi, Niloufar N; Fransson, Susanne S; Djos, Anna A; Sjöberg, Rose-Marie RM; Nilsson, Staffan S; Truvé, Katarina K; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2019-02-18

Variant appearance in text: ALK: F1245I
PubMed Link: 30778092
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37240.pdf
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: F1245I
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
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: F1245I
PubMed Link: 28756644
Variant Present in the following documents:
  • CAS-108-1913.pdf
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: ALK: 3733T>A; F1245I
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: ALK: 3733T>A; F1245I
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ALK: 3733T>A; F1245I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: ALK: F1245I
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Establishment and application of a multiplex genetic mutation-detection method of lung cancer based on MassARRAY platform.

Cancer Biology & Medicine
Tian, Hong-Xia HX; Zhang, Xu-Chao XC; Wang, Zhen Z; Chen, Jian-Guang JG; Chen, Shi-Liang SL; Guo, Wei-Bang WB; Wu, Yi-Long YL
Publication Date: 2016-03

Variant appearance in text: ALK: F1245I
PubMed Link: 27144063
Variant Present in the following documents:
  • Main text
  • cbm-13-1-68.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: ALK: F1245I
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: ALK: 3733T>A; F1245I
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-3.xlsx, sheet 1
View BVdb publication page



Emerging importance of ALK in neuroblastoma.

Seminars In Cancer Biology
Azarova, Anna M AM; Gautam, Gargi G; George, Rani E RE
Publication Date: 2011-10

Variant appearance in text: ALK: F1245I
PubMed Link: 21945349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: ALK: F1245I
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Anaplastic lymphoma kinase: signalling in development and disease.

The Biochemical Journal
Palmer, Ruth H RH; Vernersson, Emma E; Grabbe, Caroline C; Hallberg, Bengt B
Publication Date: 2009-05-27

Variant appearance in text: ALK: F1245I
PubMed Link: 19459784
Variant Present in the following documents:
  • Main text
View BVdb publication page