ALK c.3833A>C ;(p.Y1278S)

Variant ID: 2-29432655-T-G

NM_004304.4(ALK):c.3833A>C;(p.Y1278S)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Molecular Anatomy of the EML4-ALK Fusion Protein for the Development of Novel Anticancer Drugs.

International Journal Of Molecular Sciences
Cheon, So Yeong SY; Kwon, Sunghark S
Publication Date: 2023-03-18

Variant appearance in text: ALK: Y1278S
PubMed Link: 36982897
Variant Present in the following documents:
  • ijms-24-05821.pdf
View BVdb publication page



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: Y1278S
PubMed Link: 36807339
Variant Present in the following documents:
  • 41416_2023_2208_MOESM1_ESM.pdf
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Targeted treatment of refractory primitive neuroectodermal tumor arising from an immature teratoma with crizotinib leading to a sustained response.

Clinical Case Reports
Snyder, Benjamin M BM; Lion, Alex H AH; Helvie, Amy E AE; Marshall, Mark S MS; Ferguson, Michael J MJ
Publication Date: 2023-01

Variant appearance in text: ALK: Y1278S
PubMed Link: 36619485
Variant Present in the following documents:
  • CCR3-11-e6779.pdf
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ATR inhibition enables complete tumour regression in ALK-driven NB mouse models.

Nature Communications
Szydzik, Joanna J; Lind, Dan E DE; Arefin, Badrul B; Kurhe, Yeshwant Y; Umapathy, Ganesh G; Siaw, Joachim Tetteh JT; Claeys, Arne A; Gabre, Jonatan L JL; Van den Eynden, Jimmy J; Hallberg, Bengt B; Palmer, Ruth H RH
Publication Date: 2021-11-24

Variant appearance in text: ALK: Y1278S
PubMed Link: 34819497
Variant Present in the following documents:
  • 41467_2021_Article_27057.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: Y1278S
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: Y1278S
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: Y1278S
PubMed Link: 34575503
Variant Present in the following documents:
  • Main text
  • pharmaceutics-13-01427.pdf
View BVdb publication page



Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
van den Boogaard, Marlinde L ML; Oka, Rurika R; Hakkert, Anne A; Schild, Linda L; Ebus, Marli E ME; van Gerven, Michael R MR; Zwijnenburg, Danny A DA; Molenaar, Piet P; Hoyng, Lieke L LL; Dolman, M Emmy M MEM; Essing, Anke H W AHW; Koopmans, Bianca B; Helleday, Thomas T; Drost, Jarno J; van Boxtel, Ruben R; Versteeg, Rogier R; Koster, Jan J; Molenaar, Jan J JJ
Publication Date: 2021-09-07

Variant appearance in text: ALK: Y1278S
PubMed Link: 34479993
Variant Present in the following documents:
  • pnas.2007898118.sapp.pdf
View BVdb publication page



Neuroblastoma Formation Requires Unconventional CD4 T Cells and Arginase-1-Dependent Myeloid Cells.

Cancer Research
Van de Velde, Lee-Ann LA; Allen, E Kaitlynn EK; Crawford, Jeremy Chase JC; Wilson, Taylor L TL; Guy, Clifford S CS; Russier, Marion M; Zeitler, Leonie L; Bahrami, Armita A; Finkelstein, David D; Pelletier, Stephane S; Schultz-Cherry, Stacey S; Thomas, Paul G PG; Murray, Peter J PJ
Publication Date: 2021-10-01

Variant appearance in text: ALK: Y1278S
PubMed Link: 34301764
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroblastoma Formation Requires Unconventional CD4 T Cells and Arginase-1-Dependent Myeloid Cells.

Cancer Research
Van de Velde, Lee-Ann LA; Allen, E Kaitlynn EK; Crawford, Jeremy Chase JC; Wilson, Taylor L TL; Guy, Clifford S CS; Russier, Marion M; Zeitler, Leonie L; Bahrami, Armita A; Finkelstein, David D; Pelletier, Stephane S; Schultz-Cherry, Stacey S; Thomas, Paul G PG; Murray, Peter J PJ
Publication Date: 2021-10-01

Variant appearance in text: ALK: Y1278S
PubMed Link: 34301764
Variant Present in the following documents:
  • Main text
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: Y1278S
PubMed Link: 34210658
Variant Present in the following documents:
  • Main text
  • MCS006064Liu.pdf
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: Y1278S
PubMed Link: 34103089
Variant Present in the following documents:
  • Main text
  • 13046_2021_Article_1967.pdf
View BVdb publication page



Personalized Medicine for Neuroblastoma: Moving from Static Genotypes to Dynamic Simulations of Drug Response.

Journal Of Personalized Medicine
Han, Jeremy Z R JZR; Hastings, Jordan F JF; Phimmachanh, Monica M; Fey, Dirk D; Kolch, Walter W; Croucher, David R DR
Publication Date: 2021-05-11

Variant appearance in text: ALK: Y1278S
PubMed Link: 34064704
Variant Present in the following documents:
  • jpm-11-00395.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: Y1278S
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation.

The Embo Journal
Borenäs, Marcus M; Umapathy, Ganesh G; Lai, Wei-Yun WY; Lind, Dan E DE; Witek, Barbara B; Guan, Jikui J; Mendoza-Garcia, Patricia P; Masudi, Tafheem T; Claeys, Arne A; Chuang, Tzu-Po TP; El Wakil, Abeer A; Arefin, Badrul B; Fransson, Susanne S; Koster, Jan J; Johansson, Mathias M; Gaarder, Jennie J; Van den Eynden, Jimmy J; Hallberg, Bengt B; Palmer, Ruth H RH
Publication Date: 2021-02-01

Variant appearance in text: ALK: Y1278S
PubMed Link: 33411331
Variant Present in the following documents:
  • Main text
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: rs863225285
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: Y1278S
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: Y1278S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: Y1278S
PubMed Link: 31852910
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55060.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: ALK: Y1278S
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM5_ESM.xlsx, sheet 1
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: Y1278S
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: Y1278S
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: Y1278S
PubMed Link: 30803032
Variant Present in the following documents:
  • Main text
  • APM-127-288.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: Y1278S
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: Y1278S
PubMed Link: 29907598
Variant Present in the following documents:
  • Main text
  • MCS002550Gua.pdf
View BVdb publication page



Novel Mechanisms of ALK Activation Revealed by Analysis of the Y1278S Neuroblastoma Mutation.

Cancers
Guan, Jikui J; Yamazaki, Yasuo Y; Chand, Damini D; van Dijk, Jesper R JR; Ruuth, Kristina K; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2017-10-30

Variant appearance in text: ALK: Y1278S
PubMed Link: 29084134
Variant Present in the following documents:
  • Main text
  • cancers-09-00149.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: Y1278S
PubMed Link: 28756644
Variant Present in the following documents:
  • CAS-108-1913.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ALK: Y1278S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
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: Y1278S
PubMed Link: 27483357
Variant Present in the following documents:
  • Main text
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: Y1278S
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
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: Y1278S
PubMed Link: 27049722
Variant Present in the following documents:
  • Main text
  • oncotarget-07-29011.pdf
View BVdb publication page



MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Chang, Wendy W; Brohl, Andrew S AS; Patidar, Rajesh R; Sindiri, Sivasish S; Shern, Jack F JF; Wei, Jun S JS; Song, Young K YK; Yohe, Marielle E ME; Gryder, Berkley B; Zhang, Shile S; Calzone, Kathleen A KA; Shivaprasad, Nityashree N; Wen, Xinyu X; Badgett, Thomas C TC; Miettinen, Markku M; Hartman, Kip R KR; League-Pascual, James C JC; Trahair, Toby N TN; Widemann, Brigitte C BC; Merchant, Melinda S MS; Kaplan, Rosandra N RN; Lin, Jimmy C JC; Khan, Javed J
Publication Date: 2016-08-01

Variant appearance in text: ALK: Y1278S
PubMed Link: 26994145
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: Y1278S
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ALK: Y1278S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: Y1278S
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dielectrophoretic capture and genetic analysis of single neuroblastoma tumor cells.

Frontiers In Oncology
Carpenter, Erica L EL; Rader, JulieAnn J; Ruden, Jacob J; Rappaport, Eric F EF; Hunter, Kristen N KN; Hallberg, Paul L PL; Krytska, Kate K; O'Dwyer, Peter J PJ; Mosse, Yael P YP
Publication Date: 2014

Variant appearance in text: ALK: Y1278S
PubMed Link: 25133137
Variant Present in the following documents:
  • Main text
  • fonc-04-00201.pdf
View BVdb publication page



Safety and activity of crizotinib for paediatric patients with refractory solid tumours or anaplastic large-cell lymphoma: a Children's Oncology Group phase 1 consortium study.

The Lancet. Oncology
Mossé, Yael P YP; Lim, Megan S MS; Voss, Stephan D SD; Wilner, Keith K; Ruffner, Katherine K; Laliberte, Julie J; Rolland, Delphine D; Balis, Frank M FM; Maris, John M JM; Weigel, Brenda J BJ; Ingle, Ashish M AM; Ahern, Charlotte C; Adamson, Peter C PC; Blaney, Susan M SM
Publication Date: 2013-05

Variant appearance in text: ALK: Tyr1278Ser
PubMed Link: 23598171
Variant Present in the following documents:
  • Main text
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: Y1278S
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: Y1278S
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: Y1278S
PubMed Link: 19459784
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anaplastic lymphoma kinase: role in cancer pathogenesis and small-molecule inhibitor development for therapy.

Expert Review Of Anticancer Therapy
Webb, Thomas R TR; Slavish, Jake J; George, Rani E RE; Look, A Thomas AT; Xue, Liquan L; Jiang, Qin Q; Cui, Xiaoli X; Rentrop, Walter B WB; Morris, Stephan W SW
Publication Date: 2009-03

Variant appearance in text: ALK: Y1278S
PubMed Link: 19275511
Variant Present in the following documents:
  • Main text
View BVdb publication page