Publications:

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Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Bmc Cancer

Yan, Jiaqi J; He, Xin X; Shen, Chaoyong C; Zou, Yan Y; Chen, Huijiao H; Tang, Yuan Y

Publication Date: 2023-03-08

Variant appearance in text: KIT: N822H

PubMed Link: 36890498

Variant Present in the following documents:

• Main text
• 12885_2023_Article_10684.pdf

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Somatic pharmacogenomics of gastrointestinal stromal tumor.

Cancer Drug Resistance (Alhambra, Calif.)

Ravegnini, Gloria G; Hrelia, Patrizia P; Angelini, Sabrina S

Publication Date: 2019

Variant appearance in text: KIT: N822H

PubMed Link: 35582147

Variant Present in the following documents:

• cdr-2-107.pdf

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BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center.

Annals Of Translational Medicine

Ren, Min M; Zhang, Jing J; Kong, Yunyi Y; Bai, Qianming Q; Qi, Peng P; Zhang, Ling L; Wang, Qian Q; Zhou, Xiaoyan X; Chen, Yong Y; Zhu, Xiaoli X

Publication Date: 2022-01

Variant appearance in text: KIT: N822H

PubMed Link: 35282092

Variant Present in the following documents:

• Main text
• atm-10-02-31.pdf

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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: N822H

PubMed Link: 35091442

Variant Present in the following documents:

• ccr-21-2037_supplementary_data_supp0.pdf

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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: KIT: N822H

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: KIT: N822H

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

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Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.

Cancer Medicine

Shen, Yan-Ying YY; Ma, Xin-Li XL; Wang, Ming M; Zhuang, Chun C; Ni, Bo B; Tu, Lin L; Liu, Qiang Q; Zhao, Wen-Yi WY; Cao, Hui H

Publication Date: 2020-09

Variant appearance in text: KIT: N822H

PubMed Link: 32697050

Variant Present in the following documents:

• Main text
• CAM4-9-6485.pdf

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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: KIT: N822H

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: N822H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: N822H

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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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: KIT: N822H

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_ESM.xlsx, sheet 1

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Receptor Tyrosine Kinase-Targeted Cancer Therapy.

International Journal Of Molecular Sciences

Yamaoka, Toshimitsu T; Kusumoto, Sojiro S; Ando, Koichi K; Ohba, Motoi M; Ohmori, Tohru T

Publication Date: 2018-11-06

Variant appearance in text: KIT: N822H

PubMed Link: 30404198

Variant Present in the following documents:

• Main text
• ijms-19-03491.pdf

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Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Translational Gastroenterology And Hepatology

Niinuma, Takeshi T; Suzuki, Hiromu H; Sugai, Tamotsu T

Publication Date: 2018

Variant appearance in text: KIT: N822H

PubMed Link: 29441367

Variant Present in the following documents:

• Main text

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Efficacy and safety of nilotinib in patients with KIT-mutated metastatic or inoperable melanoma: final results from the global, single-arm, phase II TEAM trial.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Guo, J J; Carvajal, R D RD; Dummer, R R; Hauschild, A A; Daud, A A; Bastian, B C BC; Markovic, S N SN; Queirolo, P P; Arance, A A; Berking, C C; Camargo, V V; Herchenhorn, D D; Petrella, T M TM; Schadendorf, D D; Sharfman, W W; Testori, A A; Novick, S S; Hertle, S S; Nourry, C C; Chen, Q Q; Hodi, F S FS

Publication Date: 2017-06-01

Variant appearance in text: KIT: N822H

PubMed Link: 28327988

Variant Present in the following documents:

• Main text
• mdx079.pdf

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: KIT: 2464A>C; N822H

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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Inactivity of imatinib in gastrointestinal stromal tumors (GISTs) harboring a KIT activation-loop domain mutation (exon 17 mutation pN822K).

Oncotargets And Therapy

Spitaleri, Gianluca G; Biffi, Roberto R; Barberis, Massimo M; Fumagalli, Caterina C; Toffalorio, Francesca F; Catania, Chiara C; Noberasco, Cristina C; Lazzari, Chiara C; de Marinis, Filippo F; De Pas, Tommaso T

Publication Date: 2015

Variant appearance in text: KIT: N822H

PubMed Link: 26316776

Variant Present in the following documents:

• Main text
• ott-8-1997.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KIT: N822H

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Allosteric communication across the native and mutated KIT receptor tyrosine kinase.

Plos Computational Biology

Laine, Elodie E; Auclair, Christian C; Tchertanov, Luba L

Publication Date: 2012

Variant appearance in text: KIT: N822H

PubMed Link: 22927810

Variant Present in the following documents:

• Main text
• pcbi.1002661.pdf

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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: N822H

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KIT: N822H

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal tumor.

Cancer Chemotherapy And Pharmacology

Gounder, Mrinal M MM; Maki, Robert G RG

Publication Date: 2011-01

Variant appearance in text: KIT: N822H

PubMed Link: 21116624

Variant Present in the following documents:

• Main text

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Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Torres-Cabala, Carlos A CA; Wang, Wei-Lien WL; Trent, Jonathan J; Yang, Dan D; Chen, Su S; Galbincea, John J; Kim, Kevin B KB; Woodman, Scott S; Davies, Michael M; Plaza, Jose A JA; Nash, J W JW; Prieto, Victor G VG; Lazar, Alexander J AJ; Ivan, Doina D

Publication Date: 2009-11

Variant appearance in text: KIT: N822H

PubMed Link: 19718013

Variant Present in the following documents:

• Main text

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Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Vila, Lizette L; Liu, Hongyan H; Al-Quran, Samer Z SZ; Coco, Dominique P DP; Dong, Hui-Jia HJ; Liu, Chen C

Publication Date: 2009-10

Variant appearance in text: KIT: Asn822His

PubMed Link: 19617878

Variant Present in the following documents:

• Main text

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Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor.

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

Heinrich, Michael C MC; Maki, Robert G RG; Corless, Christopher L CL; Antonescu, Cristina R CR; Harlow, Amy A; Griffith, Diana D; Town, Ajia A; McKinley, Arin A; Ou, Wen-Bin WB; Fletcher, Jonathan A JA; Fletcher, Christopher D M CD; Huang, Xin X; Cohen, Darrel P DP; Baum, Charles M CM; Demetri, George D GD

Publication Date: 2008-11-20

Variant appearance in text: KIT: N822H

PubMed Link: 18955458

Variant Present in the following documents:

• Main text

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