KIT c.1672_1674del ;(p.K558del)

Variant ID: 4-55593604-GGAA-G

NM_000222.2(KIT):c.1672_1674del;(p.K558del)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


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: K558del
PubMed Link: 36982486
Variant Present in the following documents:
  • ijms-24-05411.pdf
View BVdb publication page



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: KIT: Lys558del
PubMed Link: 35904169
Variant Present in the following documents:
  • or-48-03-08382.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: K558del
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
George, Suzanne S; von Mehren, Margaret M; Fletcher, Jonathan A JA; Sun, Jichao J; Zhang, Sen S; Pritchard, Justin R JR; Hodgson, John Graeme JG; Kerstein, David D; Rivera, Victor M VM; Haluska, Frank G FG; Heinrich, Michael C MC
Publication Date: 2022-04-01

Variant appearance in text: KIT: K558del
PubMed Link: 35091442
Variant Present in the following documents:
  • ccr-21-2037_supplementary_data_supp0.pdf
View BVdb publication page



Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Corsini, Lidia Rita LR; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: KIT: K558del
PubMed Link: 34616493
Variant Present in the following documents:
  • 10.1177_17588359211049779.pdf
View BVdb publication page



Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Rita Corsini, Lidia L; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: KIT: K558del
PubMed Link: 34616493
Variant Present in the following documents:
  • 10.1177_17588359211049779.pdf
View BVdb publication page



The value of comprehensive genomic sequencing to maximize the identification of clinically actionable alterations in advanced cancer patients: a case series.

Oncotarget
Drenner, Kevin K; Basu, Gargi D GD; Goodman, Laurie J LJ; Ozols, Audrey A AA; LoBello, Janine R JR; Royce, Thomas T; Gordon, Michael S MS; Borazanci, Erkut H EH; Steinbach, Margaux A MA; Trent, Jeffrey J; Sharma, Sunil S
Publication Date: 2021-08-31

Variant appearance in text: KIT: K558del
PubMed Link: 34504655
Variant Present in the following documents:
  • Main text
  • oncotarget-12-1836.pdf
View BVdb publication page



Prognostic Role of Plasma PD-1, PD-L1, pan-BTN3As and BTN3A1 in Patients Affected by Metastatic Gastrointestinal Stromal Tumors: Can Immune Checkpoints Act as a Sentinel for Short-Term Survival?

Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Badalamenti, Giuseppe G; De Luca, Ida I; Algeri, Laura L; Bonasera, Annalisa A; Corsini, Lidia Rita LR; Brando, Chiara C; Russo, Antonio A; Iovanna, Juan Lucio JL; Bazan, Viviana V
Publication Date: 2021-04-27

Variant appearance in text: KIT: K558del
PubMed Link: 33925671
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: KIT: K558del
PubMed Link: 33212994
Variant Present in the following documents:
  • Main text
  • jpm-10-00234.pdf
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: K558del
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



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: KIT: K558del
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prognostic Indicators for Gastrointestinal Stromal Tumors: A Review.

Translational Oncology
Zhang, Haixin H; Liu, Qi Q
Publication Date: 2020-10

Variant appearance in text: KIT: K558del
PubMed Link: 32619820
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



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: K558del
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Clinicopathologic characteristics, diagnostic clues, and prognoses of patients with multiple sporadic gastrointestinal stromal tumors: a case series and review of the literature.

Diagnostic Pathology
Shen, Yan-Ying YY; Ma, Xin-Li XL; Yang, Lin-Xi LX; Zhao, Wen-Yi WY; Tu, Lin L; Zhuang, Chun C; Ni, Bo B; Liu, Qiang Q; Wang, Ming M; Cao, Hui H
Publication Date: 2020-05-14

Variant appearance in text: KIT: K558del
PubMed Link: 32408889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: KIT: Lys558del
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology
Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S
Publication Date: 2020-06

Variant appearance in text: KIT: Lys558del
PubMed Link: 32236636
Variant Present in the following documents:
  • Main text
  • ijo-56-06-1468.pdf
View BVdb publication page



KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A
Publication Date: 2021-01

Variant appearance in text: KIT: K558del
PubMed Link: 32091431
Variant Present in the following documents:
  • Main text
  • ejcp-30-53.pdf
  • ejcp-30-53-s001.pdf
View BVdb publication page



Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: K558del
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
View BVdb publication page



Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs.

Nature
Flavahan, William A WA; Drier, Yotam Y; Johnstone, Sarah E SE; Hemming, Matthew L ML; Tarjan, Daniel R DR; Hegazi, Esmat E; Shareef, Sarah J SJ; Javed, Nauman M NM; Raut, Chandrajit P CP; Eschle, Benjamin K BK; Gokhale, Prafulla C PC; Hornick, Jason L JL; Sicinska, Ewa T ET; Demetri, George D GD; Bernstein, Bradley E BE
Publication Date: 2019-11

Variant appearance in text: KIT: K558del
PubMed Link: 31666694
Variant Present in the following documents:
  • NIHMS1539624-supplement-Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Association between CT imaging features and KIT mutations in small intestinal gastrointestinal stromal tumors.

Scientific Reports
Yin, Yi-Qiong YQ; Liu, Chun-Juan CJ; Zhang, Bo B; Wen, Yue Y; Yin, Yuan Y
Publication Date: 2019-05-10

Variant appearance in text: KIT: K558del
PubMed Link: 31076599
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_43659.pdf
View BVdb publication page



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: KIT: K558del
PubMed Link: 30442178
Variant Present in the following documents:
  • 13073_2018_591_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: KIT: K558del
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



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: K558del
PubMed Link: 29719410
Variant Present in the following documents:
  • Main text
  • ott-11-2279.pdf
View BVdb publication page



Characterization of malignant gastrointestinal stromal tumors-a single center experience.

Journal Of Gastrointestinal Oncology
Mandrioli, Matteo M; Mastrangelo, Laura L; Masetti, Michele M; Zanini, Nicola N; Lega, Stefania S; Nannini, Margherita M; Gruppioni, Elisa E; Altimari, Annalisa A; Dei Tos, Angelo Paolo AP; Fabbri, Carlo C; Jovine, Elio E
Publication Date: 2017-12

Variant appearance in text: KIT: Lys558del
PubMed Link: 29299364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience.

South Asian Journal Of Cancer
Pai, Trupti T; Bal, Munita M; Shetty, Omshree O; Gurav, Mamta M; Ostwal, Vikas V; Ramaswamy, Anant A; Ramadwar, Mukta M; Desai, Sangeeta S
Publication Date: 2017

Variant appearance in text: KIT: K558delins
PubMed Link: 28975118
Variant Present in the following documents:
  • Main text
  • SAJC-6-113.pdf
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MiRNA profiling of gastrointestinal stromal tumors by next-generation sequencing.

Oncotarget
Gyvyte, Ugne U; Juzenas, Simonas S; Salteniene, Violeta V; Kupcinskas, Juozas J; Poskiene, Lina L; Kucinskas, Laimutis L; Jarmalaite, Sonata S; Stuopelyte, Kristina K; Steponaitiene, Ruta R; Hemmrich-Stanisak, Georg G; Hübenthal, Matthias M; Link, Alexander A; Franke, Sabine S; Franke, Andre A; Pangonyte, Dalia D; Lesauskaite, Vaiva V; Kupcinskas, Limas L; Skieceviciene, Jurgita J
Publication Date: 2017-06-06

Variant appearance in text: KIT: K558del
PubMed Link: 28402935
Variant Present in the following documents:
  • oncotarget-08-37225-s007.xlsx, sheet 1
View BVdb publication page



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: K558del
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.

Oncotarget
Tang, Chih-Min CM; Lee, Tracy E TE; Syed, Sabriya A SA; Burgoyne, Adam M AM; Leonard, Stephanie Y SY; Gao, Fei F; Chan, Jonathan C JC; Shi, Eileen E; Chmielecki, Juliann J; Morosini, Deborah D; Wang, Kai K; Ross, Jeffrey S JS; Kendrick, Michael L ML; Bardsley, Michael R MR; Siena, Martina De M; Mao, Junhao J; Harismendy, Olivier O; Ordog, Tamas T; Sicklick, Jason K JK
Publication Date: 2016-11-29

Variant appearance in text: KIT: K558del
PubMed Link: 27793025
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two different KIT mutations may lead to different responses to imatinib in metastatic gastrointestinal stromal tumor.

The Korean Journal Of Internal Medicine
Yim, Eunjung E; An, Ho Jung HJ; Cho, Uiju U; Kim, Youngwoo Y; Kim, Seung Hoon SH; Choi, Yeon-Geun YG; Shim, Byoung Yong BY
Publication Date: 2018-03

Variant appearance in text: KIT: Lys558del
PubMed Link: 27384439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibitor of Apoptosis Proteins (IAPs) are commonly dysregulated in GIST and can be pharmacologically targeted to enhance the pro-apoptotic activity of imatinib.

Oncotarget
Falkenhorst, Johanna J; Grunewald, Susanne S; Mühlenberg, Thomas T; Marino-Enriquez, Adrian A; Reis, Anna-Carina AC; Corless, Christopher C; Heinrich, Michael M; Treckmann, Jürgen J; Podleska, Lars Erik LE; Schuler, Martin M; Fletcher, Jonathan Alfred JA; Bauer, Sebastian S
Publication Date: 2016-07-05

Variant appearance in text: KIT: K558del
PubMed Link: 27167336
Variant Present in the following documents:
  • oncotarget-07-41390-s001.pdf
View BVdb publication page



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: K558del
PubMed Link: 26968814
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic DNA mutation analysis in targeted therapy of solid tumours.

Translational Pediatrics
Yu, Bing B; O'Toole, Sandra A SA; Trent, Ronald J RJ
Publication Date: 2015-04

Variant appearance in text: KIT: K558del
PubMed Link: 26835368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.

Oncotarget
Xu, Naiqing N; Fang, Wenfeng W; Mu, Libing L; Tang, Yanna Y; Gao, Lei L; Ren, Shengxiang S; Cao, Dengfeng D; Zhou, Lixin L; Zhang, Aiqun A; Liu, Deruo D; Zhou, Caicun C; Wong, Kwok-Kin KK; Yu, Lei L; Zhang, Li L; Chen, Liang L
Publication Date: 2016-01-26

Variant appearance in text: KIT: K558del
PubMed Link: 26646697
Variant Present in the following documents:
  • oncotarget-07-3884-s001.pdf
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Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study.

World Journal Of Surgical Oncology
Rubió-Casadevall, Jordi J; Borràs, Joan Lluis JL; Carmona-García, Maria Carme MC; Ameijide, Alberto A; Gonzalez-Vidal, Allan A; Ortiz, Maria Rosa MR; Bosch, Ramon R; Riu, Francesc F; Parada, David D; Martí, Esther E; Miró, Josefina J; Sirvent, Juan Jose JJ; Galceran, Jaume J; Marcos-Gragera, Rafael R
Publication Date: 2015-02-13

Variant appearance in text: KIT: K558del
PubMed Link: 25885906
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gastrointestinal stromal tumor - an evolving concept.

Frontiers In Medicine
Tornillo, Luigi L
Publication Date: 2014

Variant appearance in text: KIT: K558del
PubMed Link: 25593916
Variant Present in the following documents:
  • Main text
  • fmed-01-00043.pdf
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microRNA expression signatures of gastrointestinal stromal tumours: associations with imatinib resistance and patient outcome.

British Journal Of Cancer
Akçakaya, P P; Caramuta, S S; Åhlen, J J; Ghaderi, M M; Berglund, E E; Östman, A A; Bränström, R R; Larsson, C C; Lui, W-O WO
Publication Date: 2014-11-25

Variant appearance in text: KIT: K558del
PubMed Link: 25349971
Variant Present in the following documents:
  • Main text
  • bjc2014548a.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: K558del
PubMed Link: 25197404
Variant Present in the following documents:
  • Main text
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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Publication Date: 2014-11

Variant appearance in text: KIT: K558del
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: K558del
PubMed Link: 24672248
Variant Present in the following documents:
  • Main text
View BVdb publication page



Selecting tyrosine kinase inhibitors for gastrointestinal stromal tumor with secondary KIT activation-loop domain mutations.

Plos One
Hsueh, Yuan-Shuo YS; Lin, Chih-Lung CL; Chiang, Nai-Jung NJ; Yen, Chueh-Chuan CC; Li, Chien-Feng CF; Shan, Yan-Shen YS; Ko, Ching-Huai CH; Shih, Neng-Yao NY; Wang, Ling-Mei LM; Chen, Ting-Shou TS; Chen, Li-Tzong LT
Publication Date: 2013

Variant appearance in text: KIT: Lys558del
PubMed Link: 23840364
Variant Present in the following documents:
  • Main text
  • pone.0065762.pdf
View BVdb publication page



Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Plos One
Kelly, Lorna L; Bryan, Kenneth K; Kim, Su Young SY; Janeway, Katherine A KA; Killian, J Keith JK; Schildhaus, Hans-Ulrich HU; Miettinen, Markku M; Helman, Lee L; Meltzer, Paul S PS; van de Rijn, Matt M; Debiec-Rychter, Maria M; O'Sullivan, Maureen M; ,
Publication Date: 2013

Variant appearance in text: KIT: K558del
PubMed Link: 23717541
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

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PubMed Link: 23401433
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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

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PubMed Link: 22346343
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Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1.

Journal Of The Korean Surgical Society
Namgung, Hwan H
Publication Date: 2011-10

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PubMed Link: 22111084
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A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Dumont, A G AG; Rink, L L; Godwin, A K AK; Miettinen, M M; Joensuu, H H; Strosberg, J R JR; Gronchi, A A; Corless, C L CL; Goldstein, D D; Rubin, B P BP; Maki, R G RG; Lazar, A J AJ; Lev, D D; Trent, J C JC; von Mehren, M M
Publication Date: 2012-05

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PubMed Link: 21994214
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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

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PubMed Link: 21748247
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Profiling critical cancer gene mutations in clinical tumor samples.

Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA
Publication Date: 2009-11-18

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PubMed Link: 19924296
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Double resistance to imatinib and AMG 706 caused by multiple acquired KIT exon 17 mutations in a gastrointestinal stromal tumour.

Gut
Grabellus, Florian F; Ebeling, Peter P; Worm, Karl K; Sheu, Sien-Yi SY; Antoch, Gerald G; Frilling, Andrea A; Schmid, Kurt W KW
Publication Date: 2007-07

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PubMed Link: 17566038
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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

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PubMed Link: 15269295
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Neoadjuvant, adjuvant and palliative treatment of gastrointestinal stromal tumours (GIST) with imatinib: a centre-based study of 17 patients.

British Journal Of Cancer
Bümming, P P; Andersson, J J; Meis-Kindblom, J M JM; Klingenstierna, H H; Engström, K K; Stierner, U U; Wängberg, B B; Jansson, S S; Ahlman, H H; Kindblom, L-G LG; Nilsson, B B
Publication Date: 2003-08-04

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PubMed Link: 12888812
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The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors.

The American Journal Of Pathology
Andersson, Johanna J; Sjögren, Helene H; Meis-Kindblom, Jeanne M JM; Stenman, Göran G; Aman, Pierre P; Kindblom, Lars-Gunnar LG
Publication Date: 2002-01

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PubMed Link: 11786393
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