Publications:

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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.

Npj Precision Oncology

Mandelker, Diana D; Marra, Antonio A; Mehta, Nikita N; Selenica, Pier P; Yelskaya, Zarina Z; Yang, Ciyu C; Somar, Joshua J; Mehine, Miika M; Misyura, Maksym M; Basturk, Olca O; Latham, Alicia A; Carlo, Maria M; Walsh, Michael M; Stadler, Zsofia K ZK; Offit, Kenneth K; Bandlamudi, Chaitanya C; Hameed, Meera M; Chi, Ping P; Reis-Filho, Jorge S JS; Ceyhan-Birsoy, Ozge O

Publication Date: 2023-01-02

Variant appearance in text: PDGFRA: V561D

PubMed Link: 36593350

Variant Present in the following documents:

• 41698_2022_Article_342.pdf

View BVdb publication page

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miRNA Expression May Have Implications for Immunotherapy in PDGFRA Mutant GISTs.

International Journal Of Molecular Sciences

Ravegnini, Gloria G; Nannini, Margherita M; Indio, Valentina V; Serrano, Cesar C; Gorini, Francesca F; Astolfi, Annalisa A; Di Vito, Aldo A; Morroni, Fabiana F; Pantaleo, Maria Abbondanza MA; Hrelia, Patrizia P; Angelini, Sabrina S

Publication Date: 2022-10-14

Variant appearance in text: PDGFRA: V561D

PubMed Link: 36293105

Variant Present in the following documents:

• ijms-23-12248.pdf

View BVdb publication page

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Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.

Oncology Reports

Unk, Mojca M; Bombač, Alenka A; Jezeršek Novaković, Barbara B; Stegel, Vida V; Šetrajčič Dragoš, Vita V; Blatnik, Olga O; Klančar, Gašper G; Novaković, Srdjan S

Publication Date: 2022-09

Variant appearance in text: PDGFRA: 1682T>A; Val561Asp

PubMed Link: 35904169

Variant Present in the following documents:

• or-48-03-08382.pdf

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: PDGFRA: V561D

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Impact of the KIT/PDGFRA genotype on prognosis in imatinib-naïve Japanese patients with gastrointestinal stromal tumor.

Annals Of Gastroenterological Surgery

Cho, Haruhiko H; Nishida, Toshirou T; Takahashi, Tsuyoshi T; Masuzawa, Toru T; Hirota, Seiichi S

Publication Date: 2022-03

Variant appearance in text: PDGFRA: V561D

PubMed Link: 35261949

Variant Present in the following documents:

• Main text
• AGS3-6-241.pdf

View BVdb publication page

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Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine

Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R

Publication Date: 2022-05

Variant appearance in text: PDGFRA: 1682T>A; Val561Asp

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data3.xlsx, sheet 1

View BVdb publication page

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Current treatment strategies and future perspectives for gastrointestinal stromal tumors.

World Journal Of Gastrointestinal Pathophysiology

Sugiyama, Yoichi Y; Sasaki, Masaru M; Kouyama, Mohei M; Tazaki, Tatsuya T; Takahashi, Shinya S; Nakamitsu, Atsushi A

Publication Date: 2022-01-22

Variant appearance in text: PDGFRA: V561D

PubMed Link: 35116177

Variant Present in the following documents:

• Main text
• WJGP-13-15.pdf

View BVdb publication page

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Tyrosine Kinase Inhibitors in Adult Glioblastoma: An (Un)Closed Chapter?

Cancers

Aldaz, Paula P; Arozarena, Imanol I

Publication Date: 2021-11-18

Variant appearance in text: PDGFRA: V561D

PubMed Link: 34830952

Variant Present in the following documents:

• Main text
• cancers-13-05799.pdf

View BVdb publication page

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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: PDGFRA: V561D

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Beyond the Driver Mutation: Immunotherapies in Gastrointestinal Stromal Tumors.

Frontiers In Immunology

Roulleaux Dugage, Matthieu M; Jones, Robin Lewis RL; Trent, Jonathan J; Champiat, Stéphane S; Dumont, Sarah S

Publication Date: 2021

Variant appearance in text: PDGFRA: V561D

PubMed Link: 34489967

Variant Present in the following documents:

• fimmu-12-715727.pdf

View BVdb publication page

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Recent Progress and Challenges in the Diagnosis and Treatment of Gastrointestinal Stromal Tumors.

Cancers

Nishida, Toshirou T; Yoshinaga, Shigetaka S; Takahashi, Tsuyoshi T; Naito, Yoichi Y

Publication Date: 2021-06-24

Variant appearance in text: PDGFRA: V561D

PubMed Link: 34202544

Variant Present in the following documents:

• Main text
• cancers-13-03158.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PDGFRA: 1682T>A; V561D

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report.

The American Journal Of Case Reports

Sobral-Leite, Marcelo M; da Silva, Jesse Lopes JL; Pimenta-Inada, Haynna Kimie HK; Mendes Boisson, Andrea Sobral AS; Romeiro, Priscila de Almeida PA; Soares Parago, Fernando Mallet FM; Valadão da Silva, Marcus Vinicius M MVM; de Melo, Andreia Cristina AC

Publication Date: 2021-03-06

Variant appearance in text: PDGFRA: V561D

PubMed Link: 33674549

Variant Present in the following documents:

• amjcaserep-22-e929887.pdf

View BVdb publication page

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Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Diagnostics (Basel, Switzerland)

Brčić, Iva I; Argyropoulos, Alexandra A; Liegl-Atzwanger, Bernadette B

Publication Date: 2021-01-28

Variant appearance in text: PDGFRA: V561D

PubMed Link: 33525726

Variant Present in the following documents:

• Main text
• diagnostics-11-00194.pdf

View BVdb publication page

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Identification of Wee1 as a target in combination with avapritinib for gastrointestinal stromal tumor treatment.

Jci Insight

Ye, Shuai S; Sharipova, Dinara D; Kozinova, Marya M; Klug, Lilli L; D'Souza, Jimson J; Belinsky, Martin G MG; Johnson, Katherine J KJ; Einarson, Margret B MB; Devarajan, Karthik K; Zhou, Yan Y; Litwin, Samuel S; Heinrich, Michael C MC; DeMatteo, Ronald R; von Mehren, Margaret M; Duncan, James S JS; Rink, Lori L

Publication Date: 2021-01-25

Variant appearance in text: PDGFRA: Val561Asp

PubMed Link: 33320833

Variant Present in the following documents:

• jciinsight-6-143474.pdf

View BVdb publication page

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A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine

Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R

Publication Date: 2020-11-17

Variant appearance in text: PDGFRA: V561D

PubMed Link: 33212994

Variant Present in the following documents:

• Main text
• jpm-10-00234.pdf

View BVdb publication page

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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: rs121908586

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of gastrointestinal stromal tumors using RNA obtained via endoscopic ultrasound-guided fine-needle aspiration.

Translational Oncology

Funasaka, Kohei K; Miyahara, Ryoji R; Furukawa, Kazuhiro K; Sawada, Tsunaki T; Maeda, Keiko K; Yamamura, Takeshi T; Ishikawa, Takuya T; Ohno, Eizaburo E; Nakamura, Masanao M; Kawashima, Hiroki H; Hirooka, Yoshiki Y; Ohmiya, Naoki N; Fujishiro, Mitsuhiro M

Publication Date: 2020-11

Variant appearance in text: PDGFRA: V561D

PubMed Link: 32818739

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: PDGFRA: V561D

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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Gene Expression Profiling of PDGFRA Mutant GIST Reveals Immune Signatures as a Specific Fingerprint of D842V Exon 18 Mutation.

Frontiers In Immunology

Indio, Valentina V; Ravegnini, Gloria G; Astolfi, Annalisa A; Urbini, Milena M; Saponara, Maristella M; De Leo, Antonio A; Gruppioni, Elisa E; Tarantino, Giuseppe G; Angelini, Sabrina S; Pession, Andrea A; Pantaleo, Maria Abbondanza MA; Nannini, Margherita M

Publication Date: 2020

Variant appearance in text: PDGFRA: V561D

PubMed Link: 32670260

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overexpression of Platelet-Derived Growth Factor Receptor Α D842V Mutants Prevents Liver Regeneration and Chemically Induced Hepatocarcinogenesis via Inhibition of MET and EGFR.

Journal Of Cancer

Du, Zhao-Qing ZQ; Dong, Jian J; Li, Mu-Xing MX; Zhang, Jian-Fei JF; Bi, Jian-Bin JB; Ren, Yi-Fan YF; Zhang, Li-Na LN; Wu, Rong-Qian RQ; Monga, Satdarshan P S SPS; Lv, Yi Y; Zhang, Xu-Feng XF; Wang, Hai-Chen HC

Publication Date: 2020

Variant appearance in text: PDGFRA: V561D

PubMed Link: 32489479

Variant Present in the following documents:

• Main text
• jcav11p4614.pdf

View BVdb publication page

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Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST.

Frontiers In Oncology

Astolfi, Annalisa A; Indio, Valentina V; Nannini, Margherita M; Saponara, Maristella M; Schipani, Angela A; De Leo, Antonio A; Altimari, Annalisa A; Vincenzi, Bruno B; Comandini, Danila D; Grignani, Giovanni G; Secchiero, Paola P; Urbini, Milena M; Pantaleo, Maria Abbondanza MA

Publication Date: 2020

Variant appearance in text: PDGFRA: V561D

PubMed Link: 32391261

Variant Present in the following documents:

• Main text
• fonc-10-00504.pdf

View BVdb publication page

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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: PDGFRA: V561D

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.

Bmc Cancer

Serrano, César C; Vivancos, Ana A; López-Pousa, Antonio A; Matito, Judit J; Mancuso, Francesco M FM; Valverde, Claudia C; Quiroga, Sergi S; Landolfi, Stefania S; Castro, Sandra S; Dopazo, Cristina C; Sebio, Ana A; Virgili, Anna C AC; Menso, María M MM; Martín-Broto, Javier J; Sansó, Miriam M; García-Valverde, Alfonso A; Rosell, Jordi J; Fletcher, Jonathan A JA; George, Suzanne S; Carles, Joan J; Arribas, Joaquín J

Publication Date: 2020-02-05

Variant appearance in text: PDGFRA: V561D

PubMed Link: 32024476

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6597.pdf

View BVdb publication page

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Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Cancers

Froyen, Guy G; Le Mercier, Marie M; Lierman, Els E; Vandepoele, Karl K; Nollet, Friedel F; Boone, Elke E; Van der Meulen, Joni J; Jacobs, Koen K; Lambin, Suzan S; Vander Borght, Sara S; Van Valckenborgh, Els E; Antoniou, Aline A; Hébrant, Aline A

Publication Date: 2019-12-16

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31888289

Variant Present in the following documents:

• Main text
• cancers-11-02030.pdf

View BVdb publication page

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Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.

Brain Pathology (Zurich, Switzerland)

Lucas, Calixto-Hope G CG; Villanueva-Meyer, Javier E JE; Whipple, Nicholas N; Oberheim Bush, Nancy Ann NA; Cooney, Tabitha T; Chang, Susan S; McDermott, Michael M; Berger, Mitchel M; Cham, Elaine E; Sun, Peter P PP; Putnam, Angelica A; Zhou, Hong H; Bollo, Robert R; Cheshier, Samuel S; Poppe, Matthew M MM; Fung, Kar-Ming KM; Sung, Sarah S; Glenn, Chad C; Fan, Xuemo X; Bannykh, Serguei S; Hu, Jethro J; Danielpour, Moise M; Li, Rong R; Alva, Elizabeth E; Johnston, James J; Van Ziffle, Jessica J; Onodera, Courtney C; Devine, Patrick P; Grenert, James P JP; Lee, Julieann C JC; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Solomon, David A DA

Publication Date: 2020-05

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31609499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science

Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K

Publication Date: 2019-12

Variant appearance in text: PDGFRA: 1682T>A; V561D; rs121908586

PubMed Link: 31553483

Variant Present in the following documents:

• CAS-110-3821-s008.xlsx, sheet 1
• CAS-110-3821-s012.xlsx, sheet 1
• CAS-110-3821-s012.xlsx, sheet 2
• CAS-110-3821-s009.xlsx, sheet 1

View BVdb publication page

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N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells.

Cell Communication And Signaling : Ccs

Obata, Yuuki Y; Hara, Yasushi Y; Shiina, Isamu I; Murata, Takatsugu T; Tasaki, Yasutaka Y; Suzuki, Kyohei K; Ito, Keiichi K; Tsugawa, Shou S; Yamawaki, Kouhei K; Takahashi, Tsuyoshi T; Okamoto, Koji K; Nishida, Toshirou T; Abe, Ryo R

Publication Date: 2019-09-04

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31484543

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immune microenvironment profiling of gastrointestinal stromal tumors (GIST) shows gene expression patterns associated to immune checkpoint inhibitors response.

Oncoimmunology

Pantaleo, Maria A MA; Tarantino, Giuseppe G; Agostinelli, Claudio C; Urbini, Milena M; Nannini, Margherita M; Saponara, Maristella M; Castelli, Chiara C; Stacchiotti, Silvia S; Fumagalli, Elena E; Gatto, Lidia L; Santini, Donatella D; De Leo, Antonio A; Marafioti, Teresa T; Akarca, Ayse A; Sabattini, Elena E; Pession, Andrea A; Ardizzoni, Andrea A; Indio, Valentina V; Astolfi, Annalisa A

Publication Date: 2019

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31428517

Variant Present in the following documents:

• Main text
• koni-08-09-1617588.pdf

View BVdb publication page

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Large-scale Discovery of Substrates of the Human Kinome.

Scientific Reports

Sugiyama, Naoyuki N; Imamura, Haruna H; Ishihama, Yasushi Y

Publication Date: 2019-07-19

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31324866

Variant Present in the following documents:

• 41598_2019_46385_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Controlling cellular distribution of drugs with permeability modifying moieties.

Medchemcomm

Richardson, Paul L PL; Marin, Violeta L VL; Koeniger, Stormy L SL; Baranczak, Aleksandra A; Wilsbacher, Julie L JL; Kovar, Peter J PJ; Bacon-Trusk, Patricia E PE; Cheng, Min M; Hopkins, Todd A TA; Haman, Sandra T ST; Vasudevan, Anil A

Publication Date: 2019-06-01

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31303996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View.

Cancers

Wu, Chiao-En CE; Tzen, Chin-Yuan CY; Wang, Shang-Yu SY; Yeh, Chun-Nan CN

Publication Date: 2019-05-16

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31100836

Variant Present in the following documents:

• cancers-11-00679.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: PDGFRA: V561D

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: PDGFRA: V561D

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.

Clinical Epigenetics

Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM

Publication Date: 2019-01-07

Variant appearance in text: PDGFRA: 1682T>A; V561D

PubMed Link: 30616628

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine

Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F

Publication Date: 2018-11-15

Variant appearance in text: PDGFRA: V561D

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies.

Nature Communications

Ip, Carman K M CKM; Ng, Patrick K S PKS; Jeong, Kang Jin KJ; Shao, S H SH; Ju, Zhenlin Z; Leonard, P G PG; Hua, Xu X; Vellano, Christopher P CP; Woessner, Richard R; Sahni, Nidhi N; Scott, Kenneth L KL; Mills, Gordon B GB

Publication Date: 2018-11-02

Variant appearance in text: PDGFRA: V561D

PubMed Link: 30389923

Variant Present in the following documents:

• Main text
• 41467_2018_6949_MOESM2_ESM.pdf
• 41467_2018_6949_MOESM1_ESM.pdf
• 41467_2018_Article_6949.pdf
• 41467_2018_6949_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of solid tumor mutation profiles in liquid biopsy.

Cancer Medicine

Balaji, Sai A SA; Shanmugam, Ashwini A; Chougule, Anuradha A; Sridharan, Srikant S; Prabhash, Kumar K; Arya, Anuradha A; Chaubey, Aditya A; Hariharan, Arun A; Kolekar, Pandurang P; Sen, Manimala M; Ravichandran, Aarthi A; Katragadda, Shanmukh S; Sankaran, Satish S; Bhargava, Saurabh S; Kulkarni, Prashanth P; Rao, Suchitra S; Sunkavalli, Chinnababu C; Banavali, Shripad S; Joshi, Amit A; Noronha, Vanita V; Dutt, Amit A; Bahadur, Urvashi U; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Gupta, Vaijayanti V

Publication Date: 2018-11

Variant appearance in text: PDGFRA: Val561Asp

PubMed Link: 30264478

Variant Present in the following documents:

• CAM4-7-5439-s003.xlsx, sheet 3
• CAM4-7-5439-s004.xlsx, sheet 3
• CAM4-7-5439-s003.xlsx, sheet 6
• CAM4-7-5439-s004.xlsx, sheet 6

View BVdb publication page

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Prodrugs for colon-restricted delivery: Design, synthesis, and in vivo evaluation of colony stimulating factor 1 receptor (CSF1R) inhibitors.

Plos One

George, Dawn M DM; Huntley, Raymond J RJ; Cusack, Kevin K; Duignan, David B DB; Hoemann, Michael M; Loud, Jacqueline J; Mario, Regina R; Melim, Terry T; Mullen, Kelly K; Somal, Gagandeep G; Wang, Lu L; Edmunds, Jeremy J JJ

Publication Date: 2018

Variant appearance in text: PDGFRA: V561D

PubMed Link: 30192846

Variant Present in the following documents:

• Main text

View BVdb publication page

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PDGF/PDGFR effects in osteosarcoma and the "add-on" strategy.

Clinical Sarcoma Research

Xu, Jie J; Xie, Lu L; Guo, Wei W

Publication Date: 2018

Variant appearance in text: PDGFRA: V561D

PubMed Link: 30083310

Variant Present in the following documents:

• Main text
• 13569_2018_Article_102.pdf

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Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: PDGFRA: 1682T>A; V561D

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

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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: PDGFRA: V561D

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

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Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Oncotargets And Therapy

Chen, Qiong Q; Li, Rong R; Zhang, Zhi-Gao ZG; Deng, Qiao-Ting QT; Li, Kun K; Wang, Hao H; Yang, Xue-Xi XX; Wu, Ying-Song YS

Publication Date: 2018

Variant appearance in text: PDGFRA: V561D

PubMed Link: 29719410

Variant Present in the following documents:

• Main text
• ott-11-2279.pdf

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Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology

Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M

Publication Date: 2018-06-01

Variant appearance in text: PDGFRA: 1682T>A; V561D

PubMed Link: 29659903

Variant Present in the following documents:

• hyy052supplementaltable1ionver1.xls, sheet 1

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Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.

Esmo Open

Mavroeidis, Leonidas L; Metaxa-Mariatou, Vassiliki V; Papoudou-Bai, Alexandra A; Lampraki, Angeliki Maria AM; Kostadima, Lida L; Tsinokou, Ilias I; Zarkavelis, George G; Papadaki, Alexandra A; Petrakis, Dimitrios D; Gκoura, Stefania S; Kampletsas, Eleftherios E; Nasioulas, George G; Batistatou, Anna A; Pentheroudakis, George G

Publication Date: 2018

Variant appearance in text: PDGFRA: 1682T>A; V561D

PubMed Link: 29636989

Variant Present in the following documents:

• Main text
• esmoopen-2018-000335.pdf

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Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene.

International Journal Of Molecular Sciences

Indio, Valentina V; Astolfi, Annalisa A; Tarantino, Giuseppe G; Urbini, Milena M; Patterson, Janice J; Nannini, Margherita M; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; do Valle, Italo F IF; Castellani, Gastone G; Remondini, Daniel D; Fiorentino, Michelangelo M; von Mehren, Margaret M; Brandi, Giovanni G; Biasco, Guido G; Heinrich, Michael C MC; Pantaleo, Maria Aabbondanza MA

Publication Date: 2018-03-04

Variant appearance in text: PDGFRA: V561D

PubMed Link: 29510530

Variant Present in the following documents:

• Main text

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Mechanisms of receptor tyrosine kinase activation in cancer.

Molecular Cancer

Du, Zhenfang Z; Lovly, Christine M CM

Publication Date: 2018-02-19

Variant appearance in text: PDGFRA: V561D

PubMed Link: 29455648

Variant Present in the following documents:

• Main text

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