Publications:

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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: KIT: 1671_1676del

PubMed Link: 35904169

Variant Present in the following documents:

• or-48-03-08382.pdf

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: KIT: 1671_1676delGAAGGT; W557_V559delinsC

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: KIT: W557_V559delinsC

PubMed Link: 35547262

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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: KIT: 1671_1676delGAAGGT; W557_K558del

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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: KIT: Trp557_Val559delinsCys

PubMed Link: 33320833

Variant Present in the following documents:

• jciinsight-6-143474.pdf

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: KIT: 1671_1676delGAAGGT; W557_V559delinsC

PubMed Link: 31553483

Variant Present in the following documents:

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

View BVdb publication page

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A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Oncotarget

Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL

Publication Date: 2018-03-02

Variant appearance in text: KIT: 1671_1676del

PubMed Link: 29568401

Variant Present in the following documents:

• Main text
• oncotarget-09-13870-s001.pdf
• oncotarget-09-13870.pdf

View BVdb publication page

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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: 1671_1676del

PubMed Link: 29299364

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gastrointestinal stromal tumor of unusual phenotype after imatinib treatment: A case report and diagnostic utility of ETV1 mRNA in situ hybridization.

Medicine

Jung, Minsun M; Park, Sung-Hye SH; Jeon, Yoon Kyung YK; Won, Jae-Kyung JK; Yang, Han-Kwang HK; Kim, Woo Ho WH

Publication Date: 2017-12

Variant appearance in text: KIT: 1671_1676del

PubMed Link: 29245294

Variant Present in the following documents:

• medi-96-e9031.pdf

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KIT: 1671_1676delGAAGGT; W557_K558del

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1671_1676delGAAGGT; W557_K558del

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer

Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S

Publication Date: 2015-04-15

Variant appearance in text: KIT: W557_V559delinsC

PubMed Link: 25886408

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1311.pdf

View BVdb publication page

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