Publications:

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Development of Highly Sensitive Digital Droplet PCR for Detection of cKIT Mutations in Circulating Free DNA That Mediate Resistance to TKI Treatment for Gastrointestinal Stromal Tumor (GIST).

International Journal Of Molecular Sciences

Rassner, Michael M; Waldeck, Silvia S; Follo, Marie M; Jilg, Stefanie S; Philipp, Ulrike U; Jolic, Martina M; Wehrle, Julius J; Jost, Philipp J PJ; Peschel, Christian C; Illert, Anna Lena AL; Duyster, Justus J; Scherer, Florian F; von Bubnoff, Nikolas N

Publication Date: 2023-03-12

Variant appearance in text: KIT: Q556del

PubMed Link: 36982486

Variant Present in the following documents:

• Main text
• ijms-24-05411.pdf

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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: KIT: Q556del

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KIT: Q556del

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Pretreatment Tumor DNA Sequencing of KIT and PDGFRA in Endosonography-Guided Biopsies Optimizes the Preoperative Management of Gastrointestinal Stromal Tumors.

Molecular Diagnosis & Therapy

Hedenström, Per P; Andersson, Carola C; Sjövall, Henrik H; Enlund, Fredrik F; Nilsson, Ola O; Nilsson, Bengt B; Sadik, Riadh R

Publication Date: 2020-04

Variant appearance in text: KIT: Q556del

PubMed Link: 32124386

Variant Present in the following documents:

• 40291_2020_451_MOESM1_ESM.pdf

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Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology

Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN

Publication Date: 2019

Variant appearance in text: KIT: Q556del

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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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: KIT: Q556del

PubMed Link: 29719410

Variant Present in the following documents:

• Main text
• ott-11-2279.pdf

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Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment.

Plos One

Ihle, Michaela Angelika MA; Huss, Sebastian S; Jeske, Wiebke W; Hartmann, Wolfgang W; Merkelbach-Bruse, Sabine S; Schildhaus, Hans-Ulrich HU; Büttner, Reinhard R; Sihto, Harri H; Sundby Hall, Kirsten K; Eriksson, Mikael M; Reichardt, Peter P; Joensuu, Heikki H; Wardelmann, Eva E

Publication Date: 2018

Variant appearance in text: KIT: Q556del

PubMed Link: 29451912

Variant Present in the following documents:

• pone.0193048.pdf

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Characterizing gastrointestinal stromal tumors and evaluating neoadjuvant imatinib by sequencing of endoscopic ultrasound-biopsies.

World Journal Of Gastroenterology

Hedenström, Per P; Nilsson, Bengt B; Demir, Akif A; Andersson, Carola C; Enlund, Fredrik F; Nilsson, Ola O; Sadik, Riadh R

Publication Date: 2017-08-28

Variant appearance in text: KIT: Q556del

PubMed Link: 28932084

Variant Present in the following documents:

• Main text

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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine

Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK

Publication Date: 2016-12-14

Variant appearance in text: KIT: Q556del

PubMed Link: 27974047

Variant Present in the following documents:

• 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1

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Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Oncotarget

Ibarrola-Villava, Maider M; Fleitas, Tania T; Llorca-Cardeñosa, Marta J MJ; Mongort, Cristina C; Alonso, Elisa E; Navarro, Samuel S; Burgues, Octavio O; Vivancos, Ana A; Cejalvo, Juan Miguel JM; Perez-Fidalgo, José Alejandro JA; Roselló, Susana S; Ribas, Gloria G; Cervantes, Andrés A

Publication Date: 2016-04-19

Variant appearance in text: KIT: Q556del

PubMed Link: 26968814

Variant Present in the following documents:

• Main text
• oncotarget-07-22543.pdf
• oncotarget-07-22543-s001.pdf

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Absence of 19 known hotspot oncogenic mutations in soft tissue clear cell sarcoma: two cases report with review of the literature.

International Journal Of Clinical And Experimental Pathology

Liu, Chunxia C; Ren, Yan Y; Li, Xiaoying X; Cao, Yuwen Y; Chen, Yunzhao Y; Cui, Xiaobin X; Li, Li L; Li, Feng F

Publication Date: 2014

Variant appearance in text: KIT: Q556del

PubMed Link: 25197404

Variant Present in the following documents:

• Main text

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Oncogene mutational profile in nasopharyngeal carcinoma.

Oncotargets And Therapy

Zhang, Zi-Chen ZC; Fu, Sha S; Wang, Fang F; Wang, Hai-Yun HY; Zeng, Yi-Xin YX; Shao, Jian-Yong JY

Publication Date: 2014

Variant appearance in text: KIT: Q556del

PubMed Link: 24672248

Variant Present in the following documents:

• Main text

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Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Li, Tianhong T; Kung, Hsing-Jien HJ; Mack, Philip C PC; Gandara, David R DR

Publication Date: 2013-03-10

Variant appearance in text: KIT: Q556del

PubMed Link: 23401433

Variant Present in the following documents:

• Main text

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Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Translational Oncogenomics

Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R

Publication Date: 2012

Variant appearance in text: KIT: Q556del

PubMed Link: 22346343

Variant Present in the following documents:

• Main text

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: KIT: Q556del

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.

World Journal Of Gastroenterology

Kontogianni-Katsarou, Katerina K; Dimitriadis, Euthimios E; Lariou, Constantina C; Kairi-Vassilatou, Evi E; Pandis, Nikolaos N; Kondi-Paphiti, Agatha A

Publication Date: 2008-03-28

Variant appearance in text: KIT: Q556del

PubMed Link: 18350628

Variant Present in the following documents:

• Main text

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Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors.

The Journal Of Molecular Diagnostics : Jmd

Wardelmann, Eva E; Hrychyk, Aksana A; Merkelbach-Bruse, Sabine S; Pauls, Katharina K; Goldstein, Jennifer J; Hohenberger, Peter P; Losen, Inge I; Manegold, Christoph C; Büttner, Reinhard R; Pietsch, Torsten T

Publication Date: 2004-08

Variant appearance in text: KIT: Q556del

PubMed Link: 15269295

Variant Present in the following documents:

• Main text

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