Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KIT: V852I

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: KIT: V852I; rs555650901

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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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: V852I

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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A computational method for prioritizing targeted therapies in precision oncology: performance analysis in the SHIVA01 trial.

Npj Precision Oncology

Petak, Istvan I; Kamal, Maud M; Dirner, Anna A; Bieche, Ivan I; Doczi, Robert R; Mariani, Odette O; Filotas, Peter P; Salomon, Anne A; Vodicska, Barbara B; Servois, Vincent V; Varkondi, Edit E; Gentien, David D; Tihanyi, Dora D; Tresca, Patricia P; Lakatos, Dora D; Servant, Nicolas N; Deri, Julia J; du Rusquec, Pauline P; Hegedus, Csilla C; Bello Roufai, Diana D; Schwab, Richard R; Dupain, Celia C; Valyi-Nagy, Istvan T IT; Le Tourneau, Christophe C

Publication Date: 2021-06-23

Variant appearance in text: KIT: V852I

PubMed Link: 34162980

Variant Present in the following documents:

• 41698_2021_191_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Kidney cancer PDOXs reveal patient-specific pro-malignant effects of antiangiogenics and its molecular traits.

Embo Molecular Medicine

Moserle, Lidia L; Pons, Roser R; Martínez-Lozano, Mar M; Jiménez-Valerio, Gabriela A GA; Vidal, August A; Suárez, Cristina C; Trilla, Enrique E; Jiménez, José J; de Torres, Inés I; Carles, Joan J; Senserrich, Jordi J; Aguilar, Susana S; Palomero, Luis L; Amadori, Alberto A; Casanovas, Oriol O

Publication Date: 2020-12-07

Variant appearance in text: KIT: 2554G>A; Val852Ile; rs555650901

PubMed Link: 33151035

Variant Present in the following documents:

• EMMM-12-e11889-s001.pdf

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: V852I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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: V852I

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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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: V852I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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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: V852I

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: KIT: 2554G>A; V852I

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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Revisited analysis of a SHIVA01 trial cohort using functional mutational analyses successfully predicted treatment outcome.

Molecular Oncology

Kamal, Maud M; Tarcic, Gabi G; Dureau, Sylvain S; Edelheit, Oded O; Barbash, Zohar Z; Lecerf, Charlotte C; Morel, Claire C; Miron, Benjamin B; Callens, Celine C; Servant, Nicolas N; Bieche, Ivan I; Vidne, Michael M; Le Tourneau, Christophe C

Publication Date: 2018-05

Variant appearance in text: KIT: V852I

PubMed Link: 29464843

Variant Present in the following documents:

• Main text
• MOL2-12-594.pdf

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Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract.

Journal Of The American Academy Of Dermatology

Tseng, Diane D; Kim, Julie J; Warrick, Andrea A; Nelson, Dylan D; Pukay, Marina M; Beadling, Carol C; Heinrich, Michael M; Selim, Maria Angelica MA; Corless, Christopher L CL; Nelson, Kelly K

Publication Date: 2014-08

Variant appearance in text: KIT: V852I

PubMed Link: 24842760

Variant Present in the following documents:

• Main text

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