Publications:

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Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Translational Lung Cancer Research

Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS

Publication Date: 2023-05-31

Variant appearance in text: KIT: 1657T>A; Tyr553Asn

PubMed Link: 37323168

Variant Present in the following documents:

• tlcr-12-05-971-supplementary.pdf

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KIT: Y553N

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12
• PCMR-35-369-s002.pdf

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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: KIT: Tyr553Asn

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

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Future Perspective of Chemotherapy and Pharmacotherapy in Thymic Carcinoma.

Cancers

Kitadai, Rui R; Okuma, Yusuke Y

Publication Date: 2021-10-19

Variant appearance in text: KIT: Y553N

PubMed Link: 34680386

Variant Present in the following documents:

• Main text
• cancers-13-05239.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: Y553N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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An Overview on Molecular Characterization of Thymic Tumors: Old and New Targets for Clinical Advances.

Pharmaceuticals (Basel, Switzerland)

Tateo, Valentina V; Manuzzi, Lisa L; Parisi, Claudia C; De Giglio, Andrea A; Campana, Davide D; Pantaleo, Maria Abbondanza MA; Lamberti, Giuseppe G

Publication Date: 2021-04-01

Variant appearance in text: KIT: Y553N

PubMed Link: 33915954

Variant Present in the following documents:

• Main text

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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: KIT: 1657T>A; Y553N

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: KIT: Y553N

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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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: rs1057519704

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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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: Y553N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: KIT: Y553N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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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: Y553N

PubMed Link: 32082541

Variant Present in the following documents:

• Main text
• 13578_2020_Article_377.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: Y553N

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_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: KIT: Y553N

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

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Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications

Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY

Publication Date: 2017-11-09

Variant appearance in text: KIT: Y553N

PubMed Link: 29123093

Variant Present in the following documents:

• 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1

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A phase 2 trial of dasatinib in patients with locally advanced or stage IV mucosal, acral, or vulvovaginal melanoma: A trial of the ECOG-ACRIN Cancer Research Group (E2607).

Cancer

Kalinsky, Kevin K; Lee, Sandra S; Rubin, Krista M KM; Lawrence, Donald P DP; Iafrarte, Anthony J AJ; Borger, Darell R DR; Margolin, Kim A KA; Leitao, Mario M MM; Tarhini, Ahmad A AA; Koon, Henry B HB; Pecora, Andrew L AL; Jaslowski, Anthony J AJ; Cohen, Gary I GI; Kuzel, Timothy M TM; Lao, Christopher D CD; Kirkwood, John M JM

Publication Date: 2017-07-15

Variant appearance in text: KIT: Y553N

PubMed Link: 28334439

Variant Present in the following documents:

• Main text

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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine

Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A

Publication Date: 2017-02

Variant appearance in text: KIT: 1657T>A; Y553N

PubMed Link: 28196074

Variant Present in the following documents:

• pmed.1002230.s004.xlsx, sheet 4

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Receptor tyrosine kinase (c-Kit) inhibitors: a potential therapeutic target in cancer cells.

Drug Design, Development And Therapy

Abbaspour Babaei, Maryam M; Kamalidehghan, Behnam B; Saleem, Mohammad M; Huri, Hasniza Zaman HZ; Ahmadipour, Fatemeh F

Publication Date: 2016

Variant appearance in text: KIT: Y553N

PubMed Link: 27536065

Variant Present in the following documents:

• Main text
• dddt-10-2443.pdf

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Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

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

Kopetz, Scott S; Desai, Jayesh J; Chan, Emily E; Hecht, Joel Randolph JR; O'Dwyer, Peter J PJ; Maru, Dipen D; Morris, Van V; Janku, Filip F; Dasari, Arvind A; Chung, Woonbook W; Issa, Jean-Pierre J JP; Gibbs, Peter P; James, Brian B; Powis, Garth G; Nolop, Keith B KB; Bhattacharya, Suman S; Saltz, Leonard L

Publication Date: 2015-12-01

Variant appearance in text: KIT: Y553N

PubMed Link: 26460303

Variant Present in the following documents:

• supp_33.34.4032_DS_2015.632497.pdf

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Antitumor activity of sorafenib and imatinib in a patient with thymic carcinoma harboring c-KIT exon 13 missense mutation K642E.

Oncotargets And Therapy

Catania, Chiara C; Conforti, Fabio F; Spitaleri, Gianluca G; Barberis, Massimo M; Preda, Lorenzo L; Noberasco, Cristina C; Lazzari, Chiara C; Toffalorio, Francesca F; de Marinis, Filippo F; Manzotti, Michela M; De Pas, Tommaso Martino TM

Publication Date: 2014

Variant appearance in text: KIT: Y553N

PubMed Link: 24855380

Variant Present in the following documents:

• Main text
• ott-7-697.pdf

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Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy

Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ

Publication Date: 2012-11

Variant appearance in text: KIT: Y553N

PubMed Link: 22895070

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: Y553N

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.

Molecular Cancer Therapeutics

Woodman, Scott E SE; Trent, Jonathan C JC; Stemke-Hale, Katherine K; Lazar, Alexander J AJ; Pricl, Sabrina S; Pavan, Giovanni M GM; Fermeglia, Maurizio M; Gopal, Y N Vashisht YN; Yang, Dan D; Podoloff, Donald A DA; Ivan, Doina D; Kim, Kevin B KB; Papadopoulos, Nicholas N; Hwu, Patrick P; Mills, Gordon B GB; Davies, Michael A MA

Publication Date: 2009-08

Variant appearance in text: KIT: Y553N

PubMed Link: 19671763

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: Y553N

PubMed Link: 15269295

Variant Present in the following documents:

• Main text

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