Publications:

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Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine

van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM

Publication Date: 2023-03-02

Variant appearance in text: KIT: I798=

PubMed Link: 36889320

Variant Present in the following documents:

• main.pdf
• mmc4.pdf

View BVdb publication page

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Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.

International Journal Of Molecular Sciences

Bianchi, Ilenia I; Grassi, Simone S; Castiglione, Francesca F; Bartoli, Caterina C; De Saint Pierre, Bianca B; Focardi, Martina M; Oliva, Antonio A; Pinchi, Vilma V

Publication Date: 2022-10-25

Variant appearance in text: KIT: 2394C>T

PubMed Link: 36361687

Variant Present in the following documents:

• ijms-23-12896.pdf

View BVdb publication page

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Identification and in silico analysis of noval alteration Arg420Gly in KIT proto oncogene among acute myeloid leukemia patients.

Scientific Reports

Akram, Afia Muhammad AM; Hassan, Mubashir M; Chaudhary, Asma A; Hayat, Sikandar S; Ali, Qurban Q; Hussain, Taha T; Zafar, Amjad A; Javed, Muhammad Arshad MA

Publication Date: 2022-11-10

Variant appearance in text: KIT: Ile798Ile

PubMed Link: 36357474

Variant Present in the following documents:

• Main text
• 41598_2022_Article_23934.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: KIT: 2394C>T; I798I

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: KIT: 2394C>T; I798I; rs55789615

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: KIT: 2394C>T; I798I; rs55789615

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1
• ct9-12-e00431-s006.xlsx, sheet 1

View BVdb publication page

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Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells.

International Journal Of Molecular Sciences

Degli Esposti, Chiara C; Iadarola, Barbara B; Maestri, Simone S; Beltrami, Cristina C; Lavezzari, Denise D; Morini, Martina M; De Marco, Patrizia P; Erminio, Giovanni G; Garaventa, Alberto A; Zara, Federico F; Delledonne, Massimo M; Ognibene, Marzia M; Pezzolo, Annalisa A

Publication Date: 2021-04-01

Variant appearance in text: KIT: 2394C>T

PubMed Link: 33915956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology

Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A

Publication Date: 2021

Variant appearance in text: KIT: 2394C>T; I798=; rs55789615

PubMed Link: 33791220

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report.

The American Journal Of Case Reports

Sobral-Leite, Marcelo M; da Silva, Jesse Lopes JL; Pimenta-Inada, Haynna Kimie HK; Mendes Boisson, Andrea Sobral AS; Romeiro, Priscila de Almeida PA; Soares Parago, Fernando Mallet FM; Valadão da Silva, Marcus Vinicius M MVM; de Melo, Andreia Cristina AC

Publication Date: 2021-03-06

Variant appearance in text: rs55789615

PubMed Link: 33674549

Variant Present in the following documents:

• Main text
• amjcaserep-22-e929887.pdf

View BVdb publication page

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Outcomes in oncogenic-addicted advanced NSCLC patients with actionable mutations identified by liquid biopsy genomic profiling using a tagged amplicon-based NGS assay.

Plos One

Remon, Jordi J; Swalduz, Aurelie A; Planchard, David D; Ortiz-Cuaran, Sandra S; Mezquita, Laura L; Lacroix, Ludovic L; Jovelet, Cecile C; Rouleau, Etienne E; Leonce, Camille C; De Kievit, Frank F; Morris, Clive C; Jones, Greg G; Mercier, Kelly K; Howarth, Karen K; Green, Emma E; Pérol, Maurice M; Saintigny, Pierre P; Besse, Benjamin B

Publication Date: 2020

Variant appearance in text: KIT: I798I

PubMed Link: 32525942

Variant Present in the following documents:

• pone.0234302.s001.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: KIT: 2394C>T; rs55789615

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: KIT: 2394C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs55789615

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: rs55789615

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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IGF1R as a Key Target in High Risk, Metastatic Medulloblastoma.

Scientific Reports

Svalina, Matthew N MN; Kikuchi, Ken K; Abraham, Jinu J; Lal, Sangeet S; Davare, Monika A MA; Settelmeyer, Teagan P TP; Young, Michael C MC; Peckham, Jennifer L JL; Cho, Yoon-Jae YJ; Michalek, Joel E JE; Hernandez, Brian S BS; Berlow, Noah E NE; Jackson, Melanie M; Guillaume, Daniel J DJ; Selden, Nathan R NR; Bigner, Darell D DD; Nazemi, Kellie J KJ; Green, Sarah C SC; Corless, Christopher L CL; Gultekin, Sakir S; Mansoor, Atiya A; Rubin, Brian P BP; Woltjer, Randall R; Keller, Charles C

Publication Date: 2016-06-03

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 27255663

Variant Present in the following documents:

• srep27012-s2.xlsx, sheet 1

View BVdb publication page

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Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Oncotarget

Chatterjee, Anindya A; Ghosh, Joydeep J; Kapur, Reuben R

Publication Date: 2015-07-30

Variant appearance in text: KIT: I798I

PubMed Link: 26158763

Variant Present in the following documents:

• Main text
• oncotarget-06-18250.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: KIT: 2394C>T; I798I; rs55789615

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: KIT: 2394C>T; I798I; rs55789615

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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KIT mutations in primary mediastinal B-cell lymphoma.

Blood Cancer Journal

Nagel, P D PD; Stenzinger, A A; Feld, F M FM; Herrmann, M D MD; Brüderlein, S S; Barth, T F E TF; Marienfeld, R R; Endris, V V; Weichert, W W; Debatin, K-M KM; Westhoff, M-A MA; Lessel, D D; Möller, P P; Lennerz, J K JK

Publication Date: 2014-08-22

Variant appearance in text: KIT: I798I

PubMed Link: 25148223

Variant Present in the following documents:

• Main text
• bcj201461a.pdf

View BVdb publication page

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Endometrial stromal tumors: immunohistochemical and molecular analysis of potential targets of tyrosine kinase inhibitors.

Clinical Sarcoma Research

Sardinha, Ruth R; Hernández, Teresa T; Fraile, Susana S; Tresserra, Francesc F; Vidal, August A; Gómez, Maria Carmén MC; Astudillo, Aurora A; Hernández, Nieves N; Saenz de Santamaría, Javier J; Ordi, Jaume J; Gonçalves, Luis L; Ramos, Rafael R; Balañá, Carmen C; de Álava, Enrique E

Publication Date: 2013-03-07

Variant appearance in text: KIT: I798I

PubMed Link: 23497641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One

Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH

Publication Date: 2012

Variant appearance in text: KIT: I798I; rs55789615

PubMed Link: 22937135

Variant Present in the following documents:

• Main text
• pone.0043952.pdf

View BVdb publication page

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Duodenal GIST: a single center experience.

International Journal Of Colorectal Disease

Beham, Alexander A; Schaefer, Inga-Marie IM; Cameron, Silke S; von Hammerstein, Katharina K; Füzesi, Laszlo L; Ramadori, Giuliano G; Ghadimi, Michael B MB

Publication Date: 2013-04

Variant appearance in text: KIT: 2394C>T; I798I

PubMed Link: 22350270

Variant Present in the following documents:

• Main text
• 384_2012_Article_1432.pdf

View BVdb publication page

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Identification of MET and SRC activation in melanoma cell lines showing primary resistance to PLX4032.

Neoplasia (New York, N.Y.)

Vergani, Elisabetta E; Vallacchi, Viviana V; Frigerio, Simona S; Deho, Paola P; Mondellini, Piera P; Perego, Paola P; Cassinelli, Giuliana G; Lanzi, Cinzia C; Testi, Maria Adele MA; Rivoltini, Licia L; Bongarzone, Italia I; Rodolfo, Monica M

Publication Date: 2011-12

Variant appearance in text: KIT: I798I

PubMed Link: 22241959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Merkel cell carcinoma: correlation of KIT expression with survival and evaluation of KIT gene mutational status.

Human Pathology

Andea, Aleodor A AA; Patel, Raj R; Ponnazhagan, Selvarangan S; Kumar, Sanjay S; DeVilliers, Patricia P; Jhala, Darshana D; Eltoum, Isam E IE; Siegal, Gene P GP

Publication Date: 2010-10

Variant appearance in text: KIT: 2394C>T

PubMed Link: 20594584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

The Journal Of Molecular Diagnostics : Jmd

Corless, Christopher L CL; Harrell, Patina P; Lacouture, Mario M; Bainbridge, Troy T; Le, Claudia C; Gatter, Ken K; White, Clifton C; Granter, Scott S; Heinrich, Michael C MC

Publication Date: 2006-11

Variant appearance in text: KIT: I798I

PubMed Link: 17065430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutations of KIT in familial testicular germ cell tumours.

British Journal Of Cancer

Rapley, E A EA; Hockley, S S; Warren, W W; Johnson, L L; Huddart, R R; Crockford, G G; Forman, D D; Leahy, M G MG; Oliver, D T DT; Tucker, K K; Friedlander, M M; Phillips, K-A KA; Hogg, D D; Jewett, M A S MA; Lohynska, R R; Daugaard, G G; Richard, S S; Heidenreich, A A; Geczi, L L; Bodrogi, I I; Olah, E E; Ormiston, W J WJ; Daly, P A PA; Looijenga, L H J LH; Guilford, P P; Aass, N N; Fosså, S D SD; Heimdal, K K; Tjulandin, S A SA; Liubchenko, L L; Stoll, H H; Weber, W W; Einhorn, L L; Weber, B L BL; McMaster, M M; Greene, M H MH; Bishop, D T DT; Easton, D D; Stratton, M R MR

Publication Date: 2004-06-14

Variant appearance in text: KIT: I798I

PubMed Link: 15150569

Variant Present in the following documents:

• 90-6601880a.pdf

View BVdb publication page

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