Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: FLT3: T227M

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: FLT3: T227M

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Childhood adiposity and novel subtypes of adult-onset diabetes: a Mendelian randomisation and genome-wide genetic correlation study.

Diabetologia

Wei, Yuxia Y; Richardson, Tom G TG; Zhan, Yiqiang Y; Carlsson, Sofia S

Publication Date: 2023-02-27

Variant appearance in text: rs1933437

PubMed Link: 36843089

Variant Present in the following documents:

• 125_2023_5883_MOESM1_ESM.pdf

View BVdb publication page

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The GSK3β/Mcl-1 axis is regulated by both FLT3-ITD and Axl and determines the apoptosis induction abilities of FLT3-ITD inhibitors.

Cell Death Discovery

Qiu, Yang Y; Li, Ying Y; Chai, Meng M; Hua, Huiming H; Wang, Rui R; Waxman, Samuel S; Jing, Yongkui Y

Publication Date: 2023-02-04

Variant appearance in text: FLT3: T227M

PubMed Link: 36739272

Variant Present in the following documents:

• Main text
• 41420_2023_Article_1317.pdf

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: FLT3: T227M

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Impact of Genetic Polymorphisms and Biomarkers on the Effectiveness and Toxicity of Treatment of Chronic Myeloid Leukemia and Acute Myeloid Leukemia.

Journal Of Personalized Medicine

Alarcón-Payer, Carolina C; Sánchez Suárez, María Del Mar MDM; Martín Roldán, Alicia A; Puerta Puerta, José Manuel JM; Jiménez Morales, Alberto A

Publication Date: 2022-09-29

Variant appearance in text: rs1933437

PubMed Link: 36294746

Variant Present in the following documents:

• Main text
• jpm-12-01607.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FLT3: T227M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: FLT3: T227M

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Plos One

Przybyła, Weronika W; Gjersvoll Paulsen, Kirsti Marie KM; Mishra, Charitra Kumar CK; Nygård, Ståle S; Engebretsen, Solveig S; Ruud, Ellen E; Trøen, Gunhild G; Beiske, Klaus K; Baumbusch, Lars Oliver LO

Publication Date: 2022

Variant appearance in text: FLT3: 680C>T

PubMed Link: 36037157

Variant Present in the following documents:

• Main text
• pone.0273280.pdf

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: FLT3: 680C>T; Thr227Met; rs1933437

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research

Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T

Publication Date: 2022-07-19

Variant appearance in text: FLT3: 680C>T; Thr227Met; rs1933437

PubMed Link: 35589101

Variant Present in the following documents:

• s1_table_rrac022.xlsx, sheet 1

View BVdb publication page

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The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.

Evolutionary Bioinformatics Online

Khan, Abdul Rafay AR; Shah, Sayed Hajan SH; Ajaz, Sadia S; Firasat, Sadaf S; Abid, Aiysha A; Raza, Ali A

Publication Date: 2022

Variant appearance in text: rs1933437

PubMed Link: 35497687

Variant Present in the following documents:

• Main text
• 10.1177_11769343221095834.pdf

View BVdb publication page

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Pharmacogenomic landscape of Indian population using whole genomes.

Clinical And Translational Science

Sahana, S S; Bhoyar, Rahul C RC; Sivadas, Ambily A; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Senthivel, Vigneshwar V; Kumar Diwakar, Mohit M; Sharma, Disha D; Mishra, Anushree A; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2022-04

Variant appearance in text: rs1933437

PubMed Link: 35338580

Variant Present in the following documents:

• Main text
• CTS-15-866.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: FLT3: 680C>T; Thr227Met; rs1933437

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: FLT3: Thr227Met

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: FLT3: Thr227Met; rs1933437

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: FLT3: 680C>T; Thr227Met

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s007.xlsx, sheet 3

View BVdb publication page

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Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications

Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY

Publication Date: 2021-10-21

Variant appearance in text: FLT3: 680C>T; T227M

PubMed Link: 34675197

Variant Present in the following documents:

• 41467_2021_26308_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?

Genes

Levy, Amanda M AM; Paschou, Peristera P; Tümer, Zeynep Z

Publication Date: 2021-08-26

Variant appearance in text: FLT3: Thr227Met; rs1933437

PubMed Link: 34573303

Variant Present in the following documents:

• Main text
• genes-12-01321.pdf

View BVdb publication page

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Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report.

Oncology Letters

Lai, Si-Han SH; Li, Ye-Cheng YC; Zhang, Shan S; Deng, Rui R; Deng, Yan Y; Fan, Fang-Yi FY

Publication Date: 2021-07

Variant appearance in text: FLT3: T227M

PubMed Link: 34084226

Variant Present in the following documents:

• Main text
• ol-22-01-12820.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: FLT3: 680C>T; Thr227Met; rs1933437

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: FLT3: 680C>T; Thr227Met; rs1933437

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

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: FLT3: T227M; rs1933437

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM5_ESM.xlsx, sheet 2
• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Meta-Analysis of ABCG2 and ABCB1 Polymorphisms With Sunitinib-Induced Toxicity and Efficacy in Renal Cell Carcinoma.

Frontiers In Pharmacology

Sun, Fengjun F; Chen, Zhuo Z; Yao, Pu P; Weng, Bangbi B; Liu, Zhirui Z; Cheng, Lin L

Publication Date: 2021

Variant appearance in text: rs1933437

PubMed Link: 33762959

Variant Present in the following documents:

• Main text
• fphar-12-641075.pdf

View BVdb publication page

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Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.

Bmc Medical Genomics

Ülgen, Ege E; Can, Özge Ö; Bilguvar, Kaya K; Akyerli Boylu, Cemaliye C; Kılıçturgay Yüksel, Şirin Ş; Erşen Danyeli, Ayça A; Sezerman, O Uğur OU; Yakıcıer, M Cengiz MC; Pamir, M Necmettin MN; Özduman, Koray K

Publication Date: 2021-02-23

Variant appearance in text: rs1933437

PubMed Link: 33622343

Variant Present in the following documents:

• Main text
• 12920_2021_Article_904.pdf

View BVdb publication page

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Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.

Cancer Genomics & Proteomics

Banck, Henrik H; Dugas, Martin M; MÜller-Tidow, Carsten C; Sandmann, Sarah S

Publication Date: 2021

Variant appearance in text: FLT3: T227M

PubMed Link: 33608312

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Translational Psychiatry

Tsetsos, Fotis F; Yu, Dongmei D; Sul, Jae Hoon JH; Huang, Alden Y AY; Illmann, Cornelia C; Osiecki, Lisa L; Darrow, Sabrina M SM; Hirschtritt, Matthew E ME; Greenberg, Erica E; Muller-Vahl, Kirsten R KR; Stuhrmann, Manfred M; Dion, Yves Y; Rouleau, Guy A GA; Aschauer, Harald H; Stamenkovic, Mara M; Schlögelhofer, Monika M; Sandor, Paul P; Barr, Cathy L CL; Grados, Marco A MA; Singer, Harvey S HS; Nöthen, Markus M MM; Hebebrand, Johannes J; Hinney, Anke A; King, Robert A RA; Fernandez, Thomas V TV; Barta, Csaba C; Tarnok, Zsanett Z; Nagy, Peter P; Depienne, Christel C; Worbe, Yulia Y; Hartmann, Andreas A; Budman, Cathy L CL; Rizzo, Renata R; Lyon, Gholson J GJ; McMahon, William M WM; Batterson, James R JR; Cath, Danielle C DC; Malaty, Irene A IA; Okun, Michael S MS; Berlin, Cheston C; Woods, Douglas W DW; Lee, Paul C PC; Jankovic, Joseph J; Robertson, Mary M MM; Gilbert, Donald L DL; Brown, Lawrence W LW; Coffey, Barbara J BJ; Dietrich, Andrea A; Hoekstra, Pieter J PJ; Kuperman, Samuel S; Zinner, Samuel H SH; Wagner, Michael M; Knowles, James A JA; Jeremy Willsey, A A; Tischfield, Jay A JA; Heiman, Gary A GA; Cox, Nancy J NJ; Freimer, Nelson B NB; Neale, Benjamin M BM; Davis, Lea K LK; Coppola, Giovanni G; Mathews, Carol A CA; Scharf, Jeremiah M JM; Paschou, Peristera P; , ; Barr, Cathy L CL; Batterson, James R JR; Berlin, Cheston C; Budman, Cathy L CL; Cath, Danielle C DC; Coppola, Giovanni G; Cox, Nancy J NJ; Darrow, Sabrina S; Davis, Lea K LK; Dion, Yves Y; Freimer, Nelson B NB; Grados, Marco A MA; Greenberg, Erica E; Hirschtritt, Matthew E ME; Huang, Alden Y AY; Illmann, Cornelia C; King, Robert A RA; Kurlan, Roger R; Leckman, James F JF; Lyon, Gholson J GJ; Malaty, Irene A IA; Mathews, Carol A CA; McMahon, William M WM; Neale, Benjamin M BM; Okun, Michael S MS; Osiecki, Lisa L; Robertson, Mary M MM; Rouleau, Guy A GA; Sandor, Paul P; Scharf, Jeremiah M JM; Singer, Harvey S HS; Smit, Jan H JH; Sul, Jae Hoon JH; Yu, Dongmei D; , ; Aschauer, Harald Aschauer Harald HAH; Barta, Csaba C; Budman, Cathy L CL; Cath, Danielle C DC; Depienne, Christel C; Hartmann, Andreas A; Hebebrand, Johannes J; Konstantinidis, Anastasios A; Mathews, Carol A CA; Müller-Vahl, Kirsten K; Nagy, Peter P; Nöthen, Markus M MM; Paschou, Peristera P; Rizzo, Renata R; Rouleau, Guy A GA; Sandor, Paul P; Scharf, Jeremiah M JM; Schlögelhofer, Monika M; Stamenkovic, Mara M; Stuhrmann, Manfred M; Tsetsos, Fotis F; Tarnok, Zsanett Z; Wolanczyk, Tomasz T; Worbe, Yulia Y; , ; Brown, Lawrence L; Cheon, Keun-Ah KA; Coffey, Barbara J BJ; Dietrich, Andrea A; Fernandez, Thomas V TV; Garcia-Delgar, Blanca B; Gilbert, Donald D; Grice, Dorothy E DE; Hagstrøm, Julie J; Hedderly, Tammy T; Heiman, Gary A GA; Heyman, Isobel I; Hoekstra, Pieter J PJ; Huyser, Chaim C; Kim, Young Key YK; Kim, Young-Shin YS; King, Robert A RA; Koh, Yun-Joo YJ; Kook, Sodahm S; Kuperman, Samuel S; Leventhal, Bennett L BL; Madruga-Garrido, Marcos M; Mir, Pablo P; Morer, Astrid A; Münchau, Alexander A; Plessen, Kerstin J KJ; Roessner, Veit V; Shin, Eun-Young EY; Song, Dong-Ho DH; Song, Jungeun J; Tischfield, Jay A JA; Willsey, A Jeremy AJ; Zinner, Samuel S; , ; Aschauer, Harald H; Barr, Cathy L CL; Barta, Csaba C; Batterson, James R JR; Berlin, Cheston C; Brown, Lawrence L; Budman, Cathy L CL; Cath, Danielle C DC; Coffey, Barbara J BJ; Coppola, Giovanni G; Cox, Nancy J NJ; Darrow, Sabrina S; Davis, Lea K LK; Depienne, Christel C; Dietrich, Andrea A; Dion, Yves Y; Fernandez, Thomas T; Freimer, Nelson B NB; Gilbert, Donald D; Grados, Marco A MA; Greenberg, Erica E; Hartmann, Andreas A; Hebebrand, Johannes J; Heiman, Gary G; Hirschtritt, Matthew E ME; Hoekstra, Pieter P; Huang, Alden Y AY; Illmann, Cornelia C; Jankovic, Joseph J; King, Robert A RA; Kuperman, Samuel S; Lee, Paul C PC; Lyon, Gholson J GJ; Malaty, Irene A IA; Mathews, Carol A CA; McMahon, William M WM; Müller-Vahl, Kirsten K; Nagy, Peter P; Neale, Benjamin M BM; Nöthen, Markus M MM; Okun, Michael S MS; Osiecki, Lisa L; Paschou, Peristera P; Rizzo, Renata R; Robertson, Mary M MM; Rouleau, Guy A GA; Sandor, Paul P; Scharf, Jeremiah M JM; Schlögelhofer, Monika M; Singer, Harvey S HS; Stamenkovic, Mara M; Stuhrmann, Manfred M; Sul, Jae Hoon JH; Tarnok, Zsanett Z; Tischfield, Jay J; Tsetsos, Fotis F; Willsey, A Jeremy AJ; Woods, Douglas D; Worbe, Yulia Y; Yu, Dongmei D; Zinner, Samuel S

Publication Date: 2021-01-18

Variant appearance in text: FLT3: Thr227Met; rs1933437

PubMed Link: 33462189

Variant Present in the following documents:

• Main text
• 41398_2020_Article_1082.pdf

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FLT3 Mutations in Acute Myeloid Leukemia: Key Concepts and Emerging Controversies.

Frontiers In Oncology

Kennedy, Vanessa E VE; Smith, Catherine C CC

Publication Date: 2020

Variant appearance in text: FLT3: T227M

PubMed Link: 33425766

Variant Present in the following documents:

• Main text

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: FLT3: 680C>T; T227M

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Frontiers In Genetics

Li, Jiaming J; Peng, Zhenping Z; Luo, Fangxiu F; Chen, Yu Y

Publication Date: 2020

Variant appearance in text: FLT3: T227M

PubMed Link: 32849799

Variant Present in the following documents:

• Main text

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Pharmacogenetics for severe adverse drug reactions induced by molecular-targeted therapy.

Cancer Science

Udagawa, Chihiro C; Zembutsu, Hitoshi H

Publication Date: 2020-10

Variant appearance in text: rs1933437

PubMed Link: 32780457

Variant Present in the following documents:

• Main text
• CAS-111-3445.pdf

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: FLT3: T227M

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.

Stem Cells Translational Medicine

Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F

Publication Date: 2020-08

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 32319201

Variant Present in the following documents:

• SCT3-9-936-s001.pdf

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: FLT3: 680C>T; Thr227Met

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Jumping translocations of 1q in donor cell-derived myelodysplastic syndrome after cord blood transplantation: Case report and review of the literature.

Molecular And Clinical Oncology

Kondo, Toshinori T; Tasaka, Taizo T; Shimizu, Risa R; Hayashi, Kiyohito K; Yamada, Seiko S; Fukuda, Hirofumi H; Hirose, Tadashi T; Takeuchi, Asako A; Sano, Fuminori F; Tokunaga, Hirotoshi H; Matsuhashi, Yoshiko Y; Wada, Hideho H

Publication Date: 2020-04

Variant appearance in text: FLT3: T227M; rs1933437

PubMed Link: 32190321

Variant Present in the following documents:

• Main text

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: FLT3: 680C>T; T227M; rs1933437

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: FLT3: T227M

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Expression of myeloid Src-family kinases is associated with poor prognosis in AML and influences Flt3-ITD kinase inhibitor acquired resistance.

Plos One

Patel, Ravi K RK; Weir, Mark C MC; Shen, Kexin K; Snyder, Daniel D; Cooper, Vaughn S VS; Smithgall, Thomas E TE

Publication Date: 2019

Variant appearance in text: FLT3: T227M

PubMed Link: 31790499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative Tumor RNA Sequencing Analysis for Difficult-to-Treat Pediatric and Young Adult Patients With Cancer.

Jama Network Open

Vaske, Olena M OM; Bjork, Isabel I; Salama, Sofie R SR; Beale, Holly H; Tayi Shah, Avanthi A; Sanders, Lauren L; Pfeil, Jacob J; Lam, Du L DL; Learned, Katrina K; Durbin, Ann A; Kephart, Ellen T ET; Currie, Rob R; Newton, Yulia Y; Swatloski, Teresa T; McColl, Duncan D; Vivian, John J; Zhu, Jingchun J; Lee, Alex G AG; Leung, Stanley G SG; Spillinger, Aviv A; Liu, Heng-Yi HY; Liang, Winnie S WS; Byron, Sara A SA; Berens, Michael E ME; Resnick, Adam C AC; Lacayo, Norman N; Spunt, Sheri L SL; Rangaswami, Arun A; Huynh, Van V; Torno, Lilibeth L; Plant, Ashley A; Kirov, Ivan I; Zabokrtsky, Keri B KB; Rassekh, S Rod SR; Deyell, Rebecca J RJ; Laskin, Janessa J; Marra, Marco A MA; Sender, Leonard S LS; Mueller, Sabine S; Sweet-Cordero, E Alejandro EA; Goldstein, Theodore C TC; Haussler, David D

Publication Date: 2019-10-02

Variant appearance in text: FLT3: T227M

PubMed Link: 31651965

Variant Present in the following documents:

• jamanetwopen-2-e1913968-s001.pdf

View BVdb publication page

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