ALK c.3735C>G ;(p.F1245L)

Variant ID: 2-29436858-G-C

NM_004304.4(ALK):c.3735C>G;(p.F1245L)

This variant was identified in 25 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: F1245L
PubMed Link: 37147298
Variant Present in the following documents:
  • 41467_2023_38195_MOESM3_ESM.xlsx, sheet 2
  • 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Lorlatinib with or without chemotherapy in ALK-driven refractory/relapsed neuroblastoma: phase 1 trial results.

Nature Medicine
Goldsmith, Kelly C KC; Park, Julie R JR; Kayser, Kimberly K; Malvar, Jemily J; Chi, Yueh-Yun YY; Groshen, Susan G SG; Villablanca, Judith G JG; Krytska, Kateryna K; Lai, Lillian M LM; Acharya, Patricia T PT; Goodarzian, Fariba F; Pawel, Bruce B; Shimada, Hiroyuki H; Ghazarian, Susan S; States, Lisa L; Marshall, Lynley L; Chesler, Louis L; Granger, Meaghan M; Desai, Ami V AV; Mody, Rajen R; Morgenstern, Daniel A DA; Shusterman, Suzanne S; Macy, Margaret E ME; Pinto, Navin N; Schleiermacher, Gudrun G; Vo, Kieuhoa K; Thurm, Holger C HC; Chen, Joseph J; Liyanage, Marlon M; Peltz, Gerson G; Matthay, Katherine K KK; Berko, Esther R ER; Maris, John M JM; Marachelian, Araz A; Mossé, Yael P YP
Publication Date: 2023-04-03

Variant appearance in text: ALK: F1245L
PubMed Link: 37012551
Variant Present in the following documents:
  • 41591_2023_Article_2297.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: F1245L
PubMed Link: 36807339
Variant Present in the following documents:
  • Main text
  • 41416_2023_2208_MOESM1_ESM.pdf
  • 41416_2023_Article_2208.pdf
View BVdb publication page



A Focus on Regulatory Networks Linking MicroRNAs, Transcription Factors and Target Genes in Neuroblastoma.

Cancers
Perri, Patrizia P; Ponzoni, Mirco M; Corrias, Maria Valeria MV; Ceccherini, Isabella I; Candiani, Simona S; Bachetti, Tiziana T
Publication Date: 2021-11-03

Variant appearance in text: ALK: F1245L
PubMed Link: 34771690
Variant Present in the following documents:
  • Main text
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: F1245L
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: F1245L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: F1245L
PubMed Link: 34115544
Variant Present in the following documents:
  • Main text
  • jco-39-3377.pdf
View BVdb publication page



Association of high-risk neuroblastoma classification based on expression profiles with differentiation and metabolism.

Plos One
Kimura, Shunsuke S; Sekiguchi, Masahiro M; Watanabe, Kentaro K; Hiwatarai, Mitsuteru M; Seki, Masafumi M; Yoshida, Kenichi K; Isobe, Tomoya T; Shiozawa, Yusuke Y; Suzuki, Hiromichi H; Hoshino, Noriko N; Hayashi, Yasuhide Y; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2021

Variant appearance in text: ALK: F1245L
PubMed Link: 33465163
Variant Present in the following documents:
  • pone.0245526.s011.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: rs863225284
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: F1245L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Ultra-Deep Massive Parallel Sequencing of Plasma Cell-Free DNA Enables Large-Scale Profiling of Driver Mutations in Vietnamese Patients With Advanced Non-Small Cell Lung Cancer.

Frontiers In Oncology
Tran, Le Son LS; Nguyen, Quynh-Tho Thi QT; Nguyen, Chu Van CV; Tran, Vu-Uyen VU; Nguyen, Thai-Hoa Thi TT; Le, Ha Thu HT; Nguyen, Mai-Lan Thi MT; Le, Vu Thuong VT; Pham, Lam-Son LS; Vo, Binh Thanh BT; Dang, Anh-Thu Huynh AH; Nguyen, Luan Thanh LT; Nguyen, Thien-Chi Van TV; Pham, Hong-Anh Thi HT; Tran, Thanh-Truong TT; Nguyen, Long Hung LH; Nguyen, Thanh-Thanh Thi TT; Nguyen, Kim-Huong Thi KT; Vu, Yen-Vi YV; Nguyen, Nguyen Huu NH; Bui, Vinh-Quang VQ; Bui, Hai-Ha HH; Do, Thanh-Thuy Thi TT; Lam, Nien Vinh NV; Truong Dinh, Kiet K; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H
Publication Date: 2020

Variant appearance in text: ALK: F1245L
PubMed Link: 32850431
Variant Present in the following documents:
  • Table_2.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: F1245L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Comparison of different semi-automated cfDNA extraction methods in combination with UMI-based targeted sequencing.

Oncotarget
Streubel, Anna A; Stenzinger, Albrecht A; Stephan-Falkenau, Susann S; Kollmeier, Jens J; Misch, Daniel D; Blum, Torsten Gerriet TG; Bauer, Torsten T; Landt, Olfert O; Am Ende, Alexander A; Schirmacher, Peter P; Mairinger, Thomas T; Endris, Volker V
Publication Date: 2019-10-01

Variant appearance in text: ALK: Phe1245Leu
PubMed Link: 31620244
Variant Present in the following documents:
  • oncotarget-10-5690-s003.xlsx, sheet 1
View BVdb publication page



Duplication of ALK F1245 missense mutation due to acquired uniparental disomy associated with aggressive progression in a patient with relapsed neuroblastoma.

Oncology Letters
Kimura, Shunsuke S; Hasegawa, Daisuke D; Yoshimoto, Yuri Y; Seki, Masafumi M; Daida, Atsuro A; Sekiguchi, Masahiro M; Hirabayashi, Shinsuke S; Hosoya, Yosuke Y; Kobayashi, Masao M; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J; Manabe, Atsushi A
Publication Date: 2019-03

Variant appearance in text: ALK: F1245L
PubMed Link: 30867766
Variant Present in the following documents:
  • Main text
  • ol-17-03-3323.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: F1245L
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications
Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY
Publication Date: 2017-11-09

Variant appearance in text: ALK: F1245L
PubMed Link: 29123093
Variant Present in the following documents:
  • 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Oral Metronomic Topotecan Sensitizes Crizotinib Antitumor Activity in ALKF1174L Drug-Resistant Neuroblastoma Preclinical Models.

Translational Oncology
Zhang, Libo L; Wu, Bing B; Baruchel, Sylvain S
Publication Date: 2017-08

Variant appearance in text: ALK: F1245L
PubMed Link: 28666189
Variant Present in the following documents:
  • Main text
  • main.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: 3735C>G; F1245L
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
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: F1245L
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
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: F1245L
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Anaplastic lymphoma kinase is required for neurogenesis in the developing central nervous system of zebrafish.

Plos One
Yao, Sheng S; Cheng, Mangeng M; Zhang, Qian Q; Wasik, Mariusz M; Kelsh, Robert R; Winkler, Christoph C
Publication Date: 2013

Variant appearance in text: ALK: F1245L
PubMed Link: 23667670
Variant Present in the following documents:
  • Main text
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: F1245L
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: F1245L
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: F1245L
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: F1245L
PubMed Link: 19459784
Variant Present in the following documents:
  • Main text
  • bj4200345.pdf
View BVdb publication page